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Sample records for branchio-oto-renal syndrome result

  1. Branchio-oto-renal syndrome caused by partial EYA1 deletion due to LINE-1 insertion

    DEFF Research Database (Denmark)

    Morisada, Naoya; Rendtorff, Nanna Dahl; Nozu, Kandai

    2010-01-01

    A 7-year-old Japanese girl with conductive deafness and preauricular fistulae developed proteinuria. She had renal insufficiency, and ultrasound revealed bilateral small kidneys. These findings indicated that she had branchio-oto-renal (BOR) syndrome. In the present patient, we identified, by using...

  2. Cochlear implantation in branchio-oto-renal syndrome — A surgical challenge

    OpenAIRE

    Kameswaran, Mohan; Kumar, R. S. Anand; Murali, Sathiya; Raghunandhan, S.; Karthikeyan, K.

    2007-01-01

    Branchio-oto-renal syndrome (Melnick-Fraser Syndrome) is a rare Autosomal Dominant disorder characterized by the syndromic association of branchial cysts or fistulae along with external, middle & inner malformations and renal anomalies. Incomplete penetrance and variable expressivity are common with the phenotypic variation ranging from mild to severe forms & consisting of various eye, ear, oral and craniofacial abnormalities. Mutations in the EYA1 gene on chromosomal site 8q13.3 are identifi...

  3. Temporal bone anomalies in the branchio-oto-renal syndrome: detailed computed tomographic and magnetic resonance imaging findings.

    NARCIS (Netherlands)

    Ceruti, S.; Stinckens, C.I.C.; Cremers, C.W.R.J.; Casselman, J.W.

    2002-01-01

    OBJECTIVE: To inventory computed tomographic and magnetic resonance imaging findings in the branchio-oto-renal (BOR) syndrome. STUDY DESIGN: A prospective computed tomographic and magnetic resonance imaging study on a family with the BOR syndrome. SETTING: Department of medical imaging and magnetic

  4. Identification of a novel EYA1 splice-site mutation in a Danish branchio-oto-renal syndrome family

    DEFF Research Database (Denmark)

    Henriksen, Ann Marie; Tümer, Zeynep; Tommerup, Niels

    2004-01-01

    Branchio-oto-renal (BOR) syndrome is an autosomal dominant disorder characterized by variable clinical manifestations including branchial fistulae, preauricular pits, ear malformations, hearing impairment, and renal anomalies. BOR is caused by mutations in the genes EYA1 and SIX1. A Danish BOR...

  5. Anatomical Changes and Audiological Profile in Branchio-oto-renal Syndrome: A Literature Review

    Directory of Open Access Journals (Sweden)

    Lindau, Tâmara Andrade

    2014-01-01

    Full Text Available Introduction Branchio-oto-renal (BOR syndrome is an autosomal-dominant genetic condition with high penetrance and variable expressivity, with an estimated prevalence of 1 in 40,000. Approximately 40% of the patients with the syndrome have mutations in the gene EYA1, located at chromosomal region 8q13.3, and 5% have mutations in the gene SIX5 in chromosome region 19q13. The phenotype of this syndrome is characterized by preauricular fistulas; structural malformations of the external, middle, and inner ears; branchial fistulas; renal disorders; cleft palate; and variable type and degree of hearing loss. Aim Hearing loss is part of BOR syndrome phenotype. The aim of this study was to present a literature review on the anatomical aspects and audiological profile of BOR syndrome. Data Synthesis Thirty-four studies were selected for analysis. Some aspects when specifying the phenotype of BOR syndrome are controversial, especially those issues related to the audiological profile in which there was variability on auditory standard, hearing loss progression, and type and degree of the hearing loss. Mixed loss was the most common type of hearing loss among the studies; however, there was no consensus among studies regarding the degree of the hearing loss.

  6. Branchio-Oto-Renal Syndrome: Detection of EYA1 and SIX1 mutations in five out of six Danish families by combining linkage, sequencing and MLPA analyses

    DEFF Research Database (Denmark)

    Sanggard, Kirsten Marie; Rendtorff, Nanna Dahl; Kjaer, Klaus Wilbrandt

    2007-01-01

    The branchio-oto-renal (BOR) syndrome is an autosomal-dominant disorder characterized by hearing loss, branchial and renal anomalies. BOR is genetically heterogeneous and caused by mutations in EYA1 (8q13.3), SIX1 (14q23.1), SIX5 (19q13.3) and in an unidentified gene on 1q31. We examined six Danish...

  7. Síndrome branquio-oto-renal: A propósito de una familia Branchio-oto-renal síndrome: Apropos of a family

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    Gretsy Arcas Ermeso

    2005-06-01

    Full Text Available El síndrome branquio-oto-renal es un trastorno que se transmite con un patrón autosómico dominante caracterizado por lesiones producidas por un trastorno embriológico branquial (fístulas o quistes branquiales, alteraciones del oído (hoyuelos o fositas preauriculares, apéndices, hipoplasias de pabellones auriculares y sordera, así como diversos tipos de displasia renal que pueden ir desde duplicaciones, desplazamientos e hipoplasias, hasta la agenesia renal y otras malformaciones mayores. Se presenta una familia integrada por un padre y dos hijos de ambos sexos y de diferentes matrimonios, en la cual se constató la presencia de este síndrome poco frecuenteThe branchio-oto-renal syndrome is a disorder that is transmitted with a dominant autosomic pattern characterized y lesions produced by a branchial embriological disorder (fistulas or branchial cysts, alterations of the ear (preauricular small pits or fossae, appendices, hypoplasias of auricular pavilions and deafness, as well as diverse types of renal dysplasia that may go from duplications and displacements to renal agenesia and other major malformations. A family composed of a father and two children of both sexes from different marriages, in which the presence of this uncommon syndrome was confirmed, is presented

  8. Genetics Home Reference: branchiootorenal/branchiootic syndrome

    Science.gov (United States)

    ... a Branchio-oto-renal syndrome cohort identifies a recombination hotspot and implicates new candidate genes. Hum Genet. ... gov/books/NBK1380/ Citation on PubMed More from Genetics Home Reference Bulletins Rare Disease Day 2018 Darwin ...

  9. Mutational analysis of EYA1, SIX1 and SIX5 genes and strategies for management of hearing loss in patients with BOR/BO syndrome.

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    Mee Hyun Song

    Full Text Available BACKGROUND: Branchio-oto-renal (BOR or branchio-otic (BO syndrome is one of the most common forms of autosomal dominant syndromic hearing loss. Mutations in EYA1, SIX1 and SIX5 genes have been associated with BOR syndrome. In this study, clinical and genetic analyses were performed in patients with BOR/BO syndrome focusing on auditory manifestations and rehabilitation. METHODS: The audiologic manifestations were reviewed in 10 patients with BOR/BO syndrome. The operative findings and hearing outcome were analyzed in patients who underwent middle ear surgeries. The modality and outcome of auditory rehabilitation were evaluated. Genetic analysis was performed for EYA1, SIX1, and SIX5 genes. RESULTS: All patients presented with mixed hearing loss. Five patients underwent middle ear surgeries without successful hearing gain. Cochlear implantation performed in two patients resulted in significant hearing improvement. Genetic analysis revealed four novel EYA1 mutations and a large deletion encompassing the EYA1 gene. CONCLUSIONS: Auditory rehabilitation in BOR/BO syndrome should be individually tailored keeping in mind the high failure rate after middle ear surgeries. Successful outcome can be expected with cochlear implantations in patients with BOR/BO syndrome who cannot benefit from hearing aids. The novel EYA1 mutations may add to the genotypic and phenotypic spectrum of BOR syndrome in the East Asian population.

  10. Branchio-otic syndrome caused by a genomic rearrangement: clinical findings and molecular cytogenetic studies in a patient with a pericentric inversion of chromosome 8.

    Science.gov (United States)

    Schmidt, T; Bierhals, T; Kortüm, F; Bartels, I; Liehr, T; Burfeind, P; Shoukier, M; Frank, V; Bergmann, C; Kutsche, K

    2014-01-01

    Branchio-oto-renal (BOR) syndrome is an autosomal dominantly inherited developmental disorder, which is characterized by anomalies of the ears, the branchial arches and the kidneys. It is caused by mutations in the genes EYA1,SIX1 and SIX5. Genomic rearrangements of chromosome 8 affecting the EYA1 gene have also been described. Owing to this fact, methods for the identification of abnormal copy numbers such as multiplex ligation-dependent probe amplification (MLPA) have been introduced as routine laboratory techniques for molecular diagnostics of BOR syndrome. The advantages of these techniques are clear compared to standard cytogenetic and array approaches as well as Southern blot. MLPA detects deletions or duplications of a part or the entire gene of interest, but not balanced structural aberrations such as inversions and translocations. Consequently, disruption of a gene by a genomic rearrangement may escape detection by a molecular genetic analysis, although this gene interruption results in haploinsufficiency and, therefore, causes the disease. In a patient with clinical features of BOR syndrome, such as hearing loss, preauricular fistulas and facial dysmorphisms, but no renal anomalies, neither sequencing of the 3 genes linked to BOR syndrome nor array comparative genomic hybridization and MLPA were able to uncover a causative mutation. By routine cytogenetic analysis, we finally identified a pericentric inversion of chromosome 8 in the affected female. High-resolution multicolor banding confirmed the chromosome 8 inversion and narrowed down the karyotype to 46,XX,inv(8)(p22q13). By applying fluorescence in situ hybridization, we narrowed down both breakpoints on chromosome 8 and found the EYA1 gene in q13.3 to be directly disrupted. We conclude that standard karyotyping should not be neglected in the genetic diagnostics of BOR syndrome or other Mendelian disorders, particularly when molecular testing failed to detect any causative alteration in patients with

  11. First and second branchial arch syndromes: multimodality approach

    Energy Technology Data Exchange (ETDEWEB)

    Senggen, Elodie; Laswed, Tarek; Meuwly, Jean-Yves; Maestre, Leonor Alamo; Meuli, Reto; Gudinchet, Francois [University Hospital of Lausanne, Radiology Department, Lausanne (Switzerland); Jaques, Bertrand [University Hospital of Lausanne, Department of Otorhinolaryngology, Lausanne (Switzerland)

    2011-05-15

    First and second branchial arch syndromes (BAS) manifest as combined tissue deficiencies and hypoplasias of the face, external ear, middle ear and maxillary and mandibular arches. They represent the second most common craniofacial malformation after cleft lip and palate. Extended knowledge of the embryology and anatomy of each branchial arch derivative is mandatory for the diagnosis and grading of different BAS lesions and in the follow-up of postoperative patients. In recent years, many new complex surgical approaches and procedures have been designed by maxillofacial surgeons to treat extensive maxillary, mandibular and external and internal ear deformations. The purpose of this review is to evaluate the role of different imaging modalities (orthopantomogram (OPG), lateral and posteroanterior cephalometric radiographs, CT and MRI) in the diagnosis of a wide spectrum of first and second BAS, including hemifacial microsomia, mandibulofacial dysostosis, branchio-oto-renal syndrome, Pierre Robin sequence and Nager acrofacial dysostosis. Additionally, we aim to emphasize the importance of the systematic use of a multimodality imaging approach to facilitate the precise grading of these syndromes, as well as the preoperative planning of different reconstructive surgical procedures and their follow-up during treatment. (orig.)

  12. Genetic and bibliographic information: EYA1 [GenLibi

    Lifescience Database Archive (English)

    Full Text Available al Abnormalities (C16.131) > Chromosome Disorders (C16.131.260) > Branchio-Oto-Renal Syndrome (C16.131.260.0...90) Congenital, Hereditary, and Neonatal Diseases and Abnormalities (C16) > Genetic Diseases, Inborn (C16.320) > Chromosome Disorder

  13. A systematic search for linkage with nonsyndromic recessive deafness in two large Middle Eastern inbred kindreds excludes more than 30% of the genome

    Energy Technology Data Exchange (ETDEWEB)

    Weiss, S.; Korostishevsky, M. [Sackler Faculty of Medicine, Ramat-Aviv (Israel); Frydman, M. [Haim Sheba Medical Center, Tel-Hashomer (Israel)] [and others

    1994-09-01

    It has been estimated that as many as 35 loci may individually cause autosomal recessive non-syndromic deafness. The extreme genetic heterogeneity, limited clinical differentiation and phenotypic assortative mating in many western countries make many families unsuitable for genetic linkage studies. Recently the first of those loci was mapped (to 13q) in two consanguineous families from northern Tunisia. We are studying two large highly consanguineous Middle Eastern kindreds (a total of 26 deaf in 98 sampled individuals). Examination in each family showed no evidence of clinical heterogeneity and indicated an uncomplicated profound bilateral sensorineural deafness. We have been able to exclude the 13q locus as the cause of deafness in each kindred and have also excluded such `candidate` loci as regions as those causing Usher`s syndrome type 1 (11q13)(11p), Usher`s syndrome type II (1q32-q41), Waardenburg syndrome type I (2q37), branchio-oto-renal syndrome (8q12-q13), Monge`s deafness (5q31), and Treacher Collins syndrome (5q31.3-q33.3). To date, no lod scores greater than 1 have been obtained in either kindred using 150 RFLT`s, VNTR`s and highly polymorphic microsatellite markers (CA repeats and tetranucleotides). By Morton`s criterion a minimum of 30% of the autosomal genome can be excluded for each kindred separately.

  14. Compartment Syndrome as a Result of Systemic Capillary Leak Syndrome

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    Kwadwo Kyeremanteng

    2016-01-01

    Full Text Available Objective. To describe a single case of Systemic Capillary Leak Syndrome (SCLS with a rare complication of compartment syndrome. Patient. Our patient is a 57-year-old male, referred to our hospital due to polycythemia (hemoglobin (Hgb of 220 g/L, hypotension, acute renal failure, and bilateral calf pain. Measurements and Main Results. The patient required bilateral forearm, thigh, and calf fasciotomies during his ICU stay and continuous renal replacement therapy was instituted following onset of acute renal failure and oliguria. Ongoing hemodynamic (Norepinephrine and Milrinone infusion and respiratory (ventilator support in the ICU was provided until resolution of intravascular fluid extravasation. Conclusions. SCLS is an extremely rare disorder characterized by unexplained episodic capillary hyperpermeability, which causes shift of volume and protein from the intravascular space to the interstitial space. Patients present with significant hypotension, hemoconcentration, hypovolemia, and oliguria. Severe edema results from leakage of fluid and proteins into tissue. The most important part of treatment is maintaining stable hemodynamics, ruling out other causes of shock and diligent monitoring for complications. Awareness of the clinical syndrome with the rare complication of compartment syndrome may help guide investigations and diagnoses of these critically ill patients.

  15. Results of vitrectomy in Terson syndrome.

    Science.gov (United States)

    Sharma, Tarun; Gopal, Lingam; Biswas, Jyotirmay; Shanmugam, Mahesh P; Bhende, Pramod S; Agrawal, Rajat; Shetty, Nitin S; Sanduja, Neera

    2002-01-01

    To report visual results of vitrectomy in Terson syndrome In 11 patients, 15 eyes underwent vitreous surgery for Terson syndrome. The mean follow up was 18.3 months. An incomplete posterior vitreous separation was noted in 10 eyes (66.7%). An epiretinal membrane was present in 4 eyes (26.7%), and in 3 eyes, a retinal fold along the arcade was noticed. Significant visual improvement occurred in all eyes; visual acuity of 20/40 or better was achieved in 14 eyes (93.3%). Only 3 eyes developed lens opacity after surgery. Vitrectomy in Terson syndrome provides excellent visual recovery. The complication rate, including the development of cataract, is low.

  16. Ocular Munchausen syndrome resulting in bilateral blindness.

    Science.gov (United States)

    Salvo, M; Pinna, A; Milia, P; Carta, F

    2006-01-01

    Münchausen syndrome is a factitious disorder in which patients knowingly harm themselves for subconscious psychological reasons in order to be hospitalized. Recognition of this psychopathology is important, to prevent potentially severe eye damage. Ocular Münchausen syndrome is uncommon. The authors describe an elderly woman with recurrent, probably self-induced, ocular trauma leading to bilateral blindness. The authors are unaware of any previously reported cases of Münchausen syndrome resulting in bilateral blindness and occurring in old age. A 73-year-old woman was first seen in 1991 with a closed-globe injury to the right eye, apparently following a household fall. Physical examination showed no sign of extraocular trauma. Right visual acuity was 20/30 after 2 months. She was readmitted in May 2003 with left globe rupture, allegedly following a domestic fall. No extraocular trauma was found. She developed ocular phthisis 6 months postoperatively. The patient was admitted again in February 2004 with right globe rupture, following another alleged domestic fall. Physical examination showed no sign of extraocular trauma. Right visual acuity was 20/400 2 months postoperatively. Psychiatric evaluation revealed Münchausen syndrome. Psychotherapy was prescribed, but refused by her family. Diagnosis of Münchausen syndrome is difficult to make in the ophthalmic department. Münchausen patients have little or no ability to control their self-destructive behavior. A sympathetic and supportive approach is therefore required and these patients should be urgently referred to a psychiatrist with experience in factitious disorders. Even with psychotherapy, which is often refused, the prognosis remains poor.

  17. EXAMINATION RESULTS OF CHILDREN WITH CERVICAL SYNDROME

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    N. H. Bakhteeva

    2010-01-01

    Full Text Available By the example of examination of 80 children aged from 4 to 18 with cervical syndrome it is indicated, that the diagnosed abnormalities of hemodynamics in vertebrobasilar basin in patients of all age groups are connected both with bone and vascular pathology of the cervical part of the spine. The pathology has functional or congenital character. Early detection of discicirculatory vascular injuries in the cervical part of the spine in children with cervical syndrome will allow to define the therapeutic management of patients and to prolong juvenile osteochondrosis clinical behaviour.

  18. [DRESS syndrome as a result of sulfasalazine use].

    NARCIS (Netherlands)

    S.C. Van Der Mark (Sophie C.); D. Segers (Dolf); R.C. Bakker (René); P. van Wijngaarden (Peter)

    2012-01-01

    textabstractA 24-year-old female developed DRESS syndrome (Drug Reaction with Eosinophilia and Systemic Symptoms) as a result of sulfasalazine use. The DRESS syndrome is a severe and acute hypersensitivity reaction that can be caused by a variety of drugs. The clinical presentation is diverse; the

  19. Hearing loss and enlarged internal auditory canal in children.

    Science.gov (United States)

    Santos, Saturnino; Domínguez, M Jesús; Cervera, Javier; Suárez, Alicia; Bueno, Antonio; Bartolomé, Margarita; López, Rafael

    2014-01-01

    Among the temporal bone abnormalities that can be found in the etiological study of paediatric sensorineural hearing loss (SNHL) by imaging techniques, those related to the internal auditory canal (IAC) are the least frequent. The most prevalent of these abnormalities that is associated with SNHL is stenotic IAC due to its association with cochlear nerve deficiencies. Less frequent and less concomitant with SNHL is the finding of an enlarged IAC (>8mm). Retrospective and descriptive review of clinical associations, imaging, audiological patterns and treatment of 9 children with hearing loss and enlarged IAC in the period 1999 to 2012. Two groups of patients are described. The first, without association with vestibulocochlear dysplasias, consisted of: 2 patients with SNHL without other temporal bone or systemic abnormalities, one with bilateral mixed HL from chromosome 18q deletion, one with a genetic X-linked DFN3 hearing loss, one with unilateral hearing loss in neurofibromatosis type 2 with bilateral acoustic neuroma, and one with unilateral hearing loss with cochlear nerve deficiency. The second group, with association with vestibulocochlear dysplasias, was comprised of: one patient with moderate bilateral mixed hearing loss in branchio-oto-renal syndrome, one with profound unilateral SNHL with recurrent meningitis, and another with profound bilateral SNHL with congenital hypothyroidism. The presence of an enlarged IAC in children can be found in different clinical and audiological settings with relevancies that can range from life-threatening situations, such as recurrent meningitis, to isolated hearing loss with no other associations. Copyright © 2013 Elsevier España, S.L. All rights reserved.

  20. Hypothenar Hammer Syndrome: Long-Term Results After Vascular Reconstruction.

    Science.gov (United States)

    Kitzinger, Hugo B; van Schoonhoven, Joerg; Schmitt, Rainer; Hacker, Stefan; Karle, Birgit

    2016-01-01

    Hypothenar hammer syndrome is a rare vascular lesion of the distal ulnar artery in Guyon tunnel caused by acute or repetitive blunt trauma to the hypothenar eminence. Described treatment options vary greatly, from nonoperative management treatments to surgical interventions. The aim of this study was to evaluate the long-term outcomes of patients after surgical reconstruction of the ulnar artery. In this retrospective study, the results of 12 patients treated for hypothenar hammer syndrome were evaluated. Preoperative and postoperative examinations of the hand were recorded. Function impairment was assessed with the "Disabilites of the Arm, Shoulder and Hand" questionnaire. Comparisons were also made based on ulnar artery patency versus occlusion. All patients were evaluated for ulnar artery patency as determined by Allen's test and magnetic resonance angiography. All patients were men with an average age of 42.8 years. In 3 patients, a direct end-to-end anastomosis of the ulnar artery was performed, and 9 patients received a reconstruction with a reverse interpositional vein graft. Nine vascular reconstructions remained patent after a mean follow-up period of 56.9 months. These patients had a complete or at least partial relief of their pain, dysesthesia, and cold intolerance compared with preoperatively. Patients with reoccluded ulnar arteries were statistically significant younger (P = 0.036) than patients with patent ulnar artery. They also had a higher pain level (P = 0.009) and a longer follow-up period (P = 0.036) than those with patent reconstruction. There was a trend for higher functional impairment in patients with reoccluded ulnar artery (P = 0.100). Smoking habits showed no influence on ulnar artery patency. For patients with symptomatic hypothenar hammer syndrome and failed nonoperative treatment, surgical intervention is a good option. After more than 4.5 years after surgery 9 of 12 vascular reconstructions remained patent (75% patency rate

  1. Recurrent hydramnios as a result of fetal Bartter′s syndrome (a case report.

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    Shah M

    1991-04-01

    Full Text Available Bartter′s syndrome has been reported as a rare case of hydramnios. A unique case of recurrent hydramnios in pregnancy as a result of fetal Bartter′s syndrome on both occasions is presented.

  2. Glucocorticoid hypersensitivity syndrome resulting from inhaled corticosteroid: a case report

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    Ejiofor T Ugwu

    2017-01-01

    Full Text Available The term ‘glucocorticoid hypersensitivity syndrome’ is very sparse in the literature. It describes a very rare entity characterized by the appearance of typical Cushingoid features in the presence of normal or low serum cortisol levels. It is also known as cortisol hyper-reactive syndrome or normocortisolemic Cushing’s syndrome. This report illustrates this unusual phenomenon accompanied by metabolic syndrome-like manifestations in a young Nigerian man who was receiving inhaled corticosteroid for bronchial asthma and who experienced a significant improvement following withdrawal of the steroid treatment.

  3. Hyperparathyroidism-Jaw Tumor Syndrome: Results of surgical management

    Science.gov (United States)

    Mehta, Amit; Patel, Dhaval; Rosenberg, Avi; Boufraqech, Myriem; Ellis, Ryan J.; Nilubol, Naris; Quezado, Martha M.; Marx, Stephen J.; Simonds, William F.; Kebebew, Electron

    2014-01-01

    Background Hyperparathyroidism-jaw tumor syndrome (HPT-JT) is a rare autosomal dominant disease secondary to germline inactivating mutations of the tumor suppressor gene HRPT2/CDC73. The aim of the present study is to determine the optimal surgical approach to parathyroid disease in patients with HPT-JT. Method A retrospective analysis of clinical and genetic features, parathyroid operative outcomes, and disease outcomes in seven unrelated HPT-JT families. Results Seven families had five distinct germline HRPT2/CDC73 mutations. Sixteen affected family members (median age of 30.7 years) were diagnosed with primary hyperparathyroidism. Fifteen of the 16 patients underwent preoperative tumor localization studies and uncomplicated bilateral neck exploration at initial operation - all were in biochemical remission at most recent follow up. 31% of patients had multiglandular involvement. 37.5% of patients developed parathyroid carcinoma (median overall survival 8.9 years; median follow-up 7.4 years). Long-term follow-up showed 20% of patients had recurrent primary hyperparathyroidism. Conclusions Given the high risk of malignancy and multiglandular involvement in our cohort, we recommend bilateral neck exploration and en-bloc resection of parathyroid tumors suspicious for cancer and life-long postoperative follow-up. PMID:25444225

  4. Bisphenol A and Metabolic Syndrome: Results from NHANES

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    Srinivas Teppala

    2012-01-01

    Full Text Available Background. Bisphenol A (BPA is detected in the urine of >95% of US adults. Recent evidence from population-based studies suggests that BPA is associated with individual components for metabolic syndrome (MetS. However, no previous study has examined the direct association between BPA and MetS. Methods. We examined 2,104 participants from the National Health and Nutrition Examination Survey 2003–2008. The main outcome was the presence of MetS (n=741. Results. Increasing levels of urinary BPA were positively associated with MetS, independent of confounders such as age, gender, race/ethnicity, smoking, alcohol intake, physical activity, and urinary creatinine. Compared to tertile 1 (referent, the multivariable adjusted odds ratio (95% confidence interval of MetS in tertile 3 was 1.51 (1.07–2.12; P-trend was 0.02. Conclusions. Urinary BPA levels are positively associated with MetS, in a representative sample of US adults and independent of traditional risk factors for MetS. Future, prospective studies are needed to confirm our findings.

  5. Varfarin in the complex treatment of antiphospholipid syndrome: preliminary results

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    T M Reshetnyak

    2003-01-01

    Full Text Available Objective. To assess efficacy and tolerance of varfarin in prophylaxis and therapy of thrombotic complications in patients with antiphospholipid syndrome (APS. Methods. 20 pts with APS (5 male and 15 female received varfarin during a year. 8 of them had primary APS (PAPS and 12 -systemic lupus erythematosus with APS (SLE+APS. 2 other pts (I with SLE+APS and I with PAPS received varfarin during the last 4 years. Nobody from 9 pts with PAPS received corticosteroids (CS. In SLE+APS pts CS dose varied from 4 to 20 mg/day and was not increased during follow up. During the study prothrombine time (PT was examined with thromboplastin ( manufactured by Renam having international sensitivity index 1,2 and international normalization relation (INR. Depending on treatment scheme APS pts were divided into 3 groups. Group 1 included 8 pts with INR<2,0, Group 2-7 with INR >3,0, group 3 - 7 pts with INR<2,0 receiving as additional treatment thrombo ASS 100 mg/day and vasonit from 600 to 1200 mg/day. Results. Two pts with INR = 1,8 had thrombosis recurrence (due to leg thrombophlebitis. There were no recurrences in other groups. 2 from 22 pts had "large" bleedings. "Small" bleedings episodes were noted in 7 from 22 pts. Largely that were subcutaneous bleedings (in 4 pts no more than 5 cm of size. Two pts receiving varfarin with INR 1,8 and 2,4 had renal colic. Conclusion. Our preliminary results prove the necessity of inclusion of varfarin in the treatment of pts with APS and thrombosis but intensive anticoagulant effect is not always desired.

  6. Ellis–van Creveld syndrome and profound deafness resulted by ...

    Indian Academy of Sciences (India)

    2017-12-18

    Dec 18, 2017 ... Abstract. Ellis–van Creveld syndrome is an autosomal recessive skeletal dysplasia primarily characterized by the features such as disproportionate dwarfism, short ribs, short limbs, dysplastic nails, cardiovascular malformations, post-axial polydactyly (PAP)(bilateral) of hands and feet. EVC/EVC2 located in ...

  7. Metabolic syndrome in rheumatoid arthritis: role of adiponectin (preliminary results

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    Yulia Nikolaevna Gorbunova

    2013-01-01

    Full Text Available The clinical value of the disorders and diseases integrated within the metabolic syndrome (MS is in the combination of traditional risk factors for cardiovascular diseases (CVD, which significantly accelerates the development of cardiovascular events (CVEs. The detection rate for MS in patients with rheumatoid arthritis (RA is shown to be higher than in the controls regardless of the diagnostic criteria for MS. At present, there are confusing data on the role of adipokins in RA. Objective: to determine the rate of MS and its components in RA patients and the association of the level of adipokin (adiponectin with the components of MS in relation to the duration of RA. Subjects and methods: The investigation enrolled 69 RA patients divided into two groups: 1 34 patients with early-stage (<2-year RA and 2 35 patients with end-stage (>2-year RA. Results. MS occurred in 12 (17.4% of the 69 patients with RA. There was central (abdominal obesity in 37 (53.6% patients with RA, hypertension in 29 (42%, low high-density cholesterol levels in 20 (29%, hyperglycemia in 11 (15.9%, and hypertriglyceridemia in 10 (14.5%. According to the presence or absence of MS, the patients were divided into 2 groups: 1 12 patients with MS; 2 57 without MS. In the patients with RA and MS, the duration of the disease was shorter; DAS28 and CDAI were higher than in those without MS: 15.4 [7; 24] months versus 51.8 [6; 72] months; DAS28 was 5.8 [4.9; 6.7] scores versus 5.1 [4.5; 5.8] scores; CDAI: 34.8 [21.8; 41.4] scores versus 24.2 [18; 31] scores, respectively (p < 0.05 in all cases. The serum level of adiponectin was lower: 13.1 [5.7; 10.7] ng/ml versus 20.6 [6.9; 30.9] ng/ml in the patients with RA and MS as compared to those without MS; but there were no significant differences. In the patients with early-end RA, the rate of MS was twice higher than that in those with end-stage RA; however, the differences were statistically insignificant (p = 0.1. The components of MS

  8. [Indications and results of vitrectomy in Terson syndrome].

    Science.gov (United States)

    Nacef, Leila; Zghal-Mokni, Imen; Allagui, Ikram; Haba, Badreddine; Daghfous, Fethi; Gaigi, Sadok; Jeddi, Amel; Ayed, Saida

    2004-05-01

    Terson syndrome or vitreal hemorrhage associated with subdural hemorrhage is a rare condition. The goal of our work through a retrospective series of 3 cases (4 eyes) is to study clinical characteristics as well as adequate moment of surgery. All our patients had unilateral or bilateral visual impairement secondary to cerebral lesion. Ophtalmologic exam showed an intravitreal hemorrhage. Two of our patients were operated by vitrectomy, the third case had a spontaneous resorption of intravitreal hemorrhage and no surgery was performed. Functional prognosis depends on neuro-ophtalmologic sequellas. Ophtalmic exam is essential in cerebral hemorrhage. For intravitreal hemorrhage spontaneous resorption is frequent and vitrectomy must be delayed.

  9. HEALTHY intervention: fitness, physical activity, and metabolic syndrome results.

    Science.gov (United States)

    Jago, Russell; McMurray, Robert G; Drews, Kimberly L; Moe, Esther L; Murray, Tinker; Pham, Trang H; Venditti, Elizabeth M; Volpe, Stella L

    2011-08-01

    This study aimed to assess the effect of the HEALTHY intervention on the metabolic syndrome (Met-S), fitness, and physical activity levels of US middle-school students. Cluster randomized controlled trial conducted in 42 (21 intervention) US middle schools. Participants were recruited at the start of sixth grade (2006) when baseline assessments were made, with post-assessments made 2.5 yr later at the end of eighth grade (2009). The HEALTHY intervention had four components: 1) improved school food environment, 2) physical activity and eating educational sessions, 3) social marketing, and 4) revised physical education curriculum. Met-S risk factors, 20-m shuttle run (fitness), and self-reported moderate to vigorous physical activity (MVPA) were assessed at each time point. Ethnicity and gender were self-reported. Obesity status (normal weight, overweight, or obese) was also assessed. At baseline, 5% of the participants were classified with Met-S, with two-thirds of the males and one-third of the females recording below average baseline fitness levels. Control group participants reported 96 min of MVPA at baseline with 103 min reported by the intervention group. There were no statistically significant (P physical activity levels. Approaches that focus on how to change physical activity, fitness, and Met-S using nonschool or perhaps in addition to school based components need to be developed.

  10. Revisiting the refeeding syndrome: Results of a systematic review.

    Science.gov (United States)

    Friedli, Natalie; Stanga, Zeno; Sobotka, Lubos; Culkin, Alison; Kondrup, Jens; Laviano, Alessandro; Mueller, Beat; Schuetz, Philipp

    2017-03-01

    Although described >70 y ago, the refeeding syndrome (RFS) remains understudied with lack of standardized definition and treatment recommendations. The aim of this systematic review was to gather evidence regarding standardized definition, incidence rate and time course of occurrence, association with adverse clinical outcomes, risk factors, and therapeutic strategies to prevent or treat this condition. We searched MEDLINE and EMBASE for interventional and observational clinical trials focusing on RFS, excluding case reports and reviews. We extracted data based on a predefined case report form and assessed bias. Of 2207 potential abstracts, 45 records with a total of 6608 patients were included (3 interventional trials, 16 studies focusing on anorexic patients). Definitions for RFS were highly heterogenous with most studies relying on blood electrolyte disturbances only and others also including clinical symptoms. Incidence rates varied between 0% and 80%, depending on the definition and patient population studied. Occurrence was mostly within the first 72 h of start of nutritional therapy. Most of the risk factors were in accordance with National Institute for Health and Care Excellence guidelines, with older age and enteral feeding being additional factors. There was no strong evidence regarding association of RFS and adverse outcomes, as well as regarding preventive measures and treatment algorithms. This systematic review focusing on RFS found consensus regarding risk factors and timing of occurrence, but wide variations regarding definition, reported incidence rates, preventive measures and treatment recommendations. Further research to fill this gap is urgently needed. Copyright © 2016 Elsevier Inc. All rights reserved.

  11. Hyperparathyroidism-jaw tumor syndrome: Results of operative management.

    Science.gov (United States)

    Mehta, Amit; Patel, Dhaval; Rosenberg, Avi; Boufraqech, Myriem; Ellis, Ryan J; Nilubol, Naris; Quezado, Martha M; Marx, Stephen J; Simonds, William F; Kebebew, Electron

    2014-12-01

    Hyperparathyroidism-jaw tumor syndrome (HPT-JT) is a rare, autosomal-dominant disease secondary to germline-inactivating mutations of the tumor suppressor gene HRPT2/CDC73. The aim of the present study was to determine the optimal operative approach to parathyroid disease in patients with HPT-JT. A retrospective analysis of clinical and genetic features, parathyroid operative outcomes, and disease outcomes in 7 unrelated HPT-JT families. Seven families had 5 distinct germline HRPT2/CDC73 mutations. Sixteen affected family members (median age, 30.7 years) were diagnosed with primary hyperparathyroidism (PHPT). Fifteen of the 16 patients underwent preoperative tumor localization studies and uncomplicated bilateral neck exploration at initial operation; all were in biochemical remission at most recent follow-up. Of these patients, 31% had multiglandular involvement; 37.5% of the patients developed parathyroid carcinoma (median overall survival, 8.9 years; median follow-up, 7.4 years). Long-term follow-up showed that 20% of patients had recurrent PHPT. Given the high risk of malignancy and multiglandular involvement in our cohort, we recommend bilateral neck exploration and en bloc resection of parathyroid tumors suspicious for cancer and life-long postoperative follow-up. Published by Elsevier Inc.

  12. [Asthma-COPD-Overlap-Syndrome - when a diagnostic dilemma results in a new syndrome].

    Science.gov (United States)

    Watz, Henrik

    2016-05-01

    Symptomatic patients with airflow limitation need to have a diagnostic follow-up to distinguish chronic obstructive pulmonary disease (COPD) from asthma. In the majority of cases this can be easily done based on symptoms, exposition to e. g. allergens or cigarette smoke, measures of allergy, and extensive lung function testing. In a minority of patients, however, it is difficult to distinguish between asthma and COPD. The term "asthma-copd-overlap-syndrome" has been proposed fur such cases. The current problem with this proposal is the lack of studies that all used the same criteria to better characterize this syndrome. Furthermore, there is not a single therapeutic-interventional study that would allow a firm conclusion regarding the proposed therapy. Therefore, the primary diagnosis should still be either COPD or asthma. © Georg Thieme Verlag KG Stuttgart · New York.

  13. [Sick building syndrome--a result of modern lifestyle].

    Science.gov (United States)

    Nikić, Dragana; Stojanović, Dusica

    2004-01-01

    Sick building syndrome (SBS) is a term used to describe situation in building when more than 30% of occupants suffer from various symptoms which tend to increase by severity during the time people spend in "sick" building and disappear when they leave the building. Typical cases of SBS report vague symptoms, which cannot be objectively measured, and sufferers usually show no clinical signs of illness. Symptom heterogeneity suggests that they do not represent a single disorder. The objective of our study was to establish if SBS is present in our town because new buildings have been built lately producing the artificial environment--exclusively artificial lightning and mechanical ventilation. A total of 812 subjects were included in our study. The investigation of SBS was performed by standardized questionnaires to determine the prevalence of symptoms and complaints. Questionnaires were used to collect data on perception of environment conditions and health during the period they work in this building. The subjects were divided in three groups according to sex, level of education and ownership. Our data suggested that the incidence of symptoms was higher in employers than in owners of the offices. Moreover, the prevalence of SBS was very high-up to 74.76%. It is obvious that certain physical, psychological and organizational factors are involved in the incidence of symptoms, but our investigation suggests that physical factor has a dominant role in development of symptoms, particularly low humidity and low air flow. In addition, our judgment is that SBS exists in our city, probably in the whole country and, therefore, it must be investigated properly.

  14. The NOD2 defect in Blau syndrome does not result in excess interleukin 1 activity

    Science.gov (United States)

    Martin, Tammy M.; Zhang, Zili; Kurz, Paul; Rose, Carlos D.; Chen, Hong; Lu, Huiying; Planck, Stephen R.; Davey, Michael P.; Rosenbaum, James T.

    2009-01-01

    Objective Blau syndrome is a rare, autosomal dominant, autoinflammatory disorder characterized by granulomatous arthritis, uveitis, and dermatitis. Genetic studies have shown that the disease is caused by single, nonsynonymous substitutions in NOD2, a member of the NOD-like receptor, or NACHT-LRR, (NLR) family of intracellular proteins. Several NLR function in the innate immune system as sensors of pathogen components and participate in immune-mediated cellular responses via the caspase 1 inflammasome. Mutations in a gene related to NOD2, NLRP3, are responsible for excess caspase 1-dependent IL-1β in cryopyrinopathies like Muckle-Wells syndrome. Furthermore, functional studies demonstrate that caspase 1-mediated release of IL-1β also involves NOD2. Here we test the hypothesis that IL-1β may mediate the inflammation seen in Blau syndrome patients. Methods IL-1β release was measured from peripheral blood mononuclear cells cultured in vitro from five Blau syndrome individuals who have a NOD2 mutation. Results We report no evidence for increased IL-1β production in the cells obtained from Blau syndrome subjects compared to healthy controls. Furthermore, we present two Blau syndrome cases in which recombinant human IL-1 receptor antagonist (anakinra) was ineffective treatment. Conclusion Together, these data suggest that in contrast to related IL-1β dependent autoinflammatory cryopyrinopathies, Blau syndrome is not mediated by excess IL-1β or other IL-1 activity. PMID:19180500

  15. Growth curves for Turkish Girls with Turner Syndrome: Results of the Turkish Turner Syndrome Study Group.

    Science.gov (United States)

    Darendeliler, Feyza; Yeşilkaya, Ediz; Bereket, Abdullah; Baş, Firdevs; Bundak, Rüveyde; Sarı, Erkan; Küçükemre Aydın, Banu; Darcan, Şükran; Dündar, Bumin; Büyükinan, Muammer; Kara, Cengiz; Mazıcıoğlu, Mümtaz M; Adal, Erdal; Akıncı, Ayşehan; Atabek, Mehmet Emre; Demirel, Fatma; Çelik, Nurullah; Özkan, Behzat; Özhan, Bayram; Orbak, Zerrin; Ersoy, Betül; Doğan, Murat; Ataş, Ali; Turan, Serap; Gökşen, Damla; Tarım, Ömer; Yüksel, Bilgin; Ercan, Oya; Hatun, Şükrü; Şimşek, Enver; Ökten, Ayşenur; Abacı, Ayhan; Döneray, Hakan; Özbek, Mehmet Nuri; Keskin, Mehmet; Önal, Hasan; Akyürek, Nesibe; Bulan, Kezban; Tepe, Derya; Emeksiz, Hamdi Cihan; Demir, Korcan; Kızılay, Deniz; Topaloğlu, Ali Kemal; Eren, Erdal; Özen, Samim; Demirbilek, Hüseyin; Abalı, Saygın; Akın, Leyla; Eklioğlu, Beray Selver; Kaba, Sultan; Anık, Ahmet; Baş, Serpil; Ünüvar, Tolga; Sağlam, Halil; Bolu, Semih; Özgen, Tolga; Doğan, Durmuş; Çakır, Esra Deniz; Şen, Yaşar; Andıran, Nesibe; Çizmecioğlu, Filiz; Evliyaoğlu, Olcay; Karagüzel, Gülay; Pirgon, Özgür; Çatlı, Gönül; Can, Hatice Dilek; Gürbüz, Fatih; Binay, Çiğdem; Baş, Veysel Nijat; Sağlam, Celal; Gül, Davut; Polat, Adem; Açıkel, Cengizhan; Cinaz, Peyami

    2015-09-01

    Children with Turner syndrome (TS) have a specific growth pattern that is quite different from that of healthy children. Many countries have population-specific growth charts for TS. Considering national and ethnic differences, we undertook this multicenter collaborative study to construct growth charts and reference values for height, weight and body mass index (BMI) from 3 years of age to adulthood for spontaneous growth of Turkish girls with TS. Cross-sectional height and weight data of 842 patients with TS, younger than 18 years of age and before starting any therapy, were evaluated. The data were processed to calculate the 3rd, 10th, 25th, 50th, 75th, 90th and 97th percentile values for defined ages and to construct growth curves for height-for-age, weight-for-age and BMI-for-age of girls with TS. The growth pattern of TS girls in this series resembled the growth pattern of TS girls in other reports, but there were differences in height between our series and the others. This study provides disease-specific growth charts for Turkish girls with TS. These disease-specific national growth charts will serve to improve the evaluation of growth and its management with growth-promoting therapeutic agents in TS patients.

  16. Periodic fever syndromes in Eastern and Central European countries: results of a pediatric multinational survey

    Directory of Open Access Journals (Sweden)

    Stefan Mariana

    2010-12-01

    Full Text Available Abstract Objective To analyze the prevalence of diagnosed and suspected autoinflammatory diseases in Eastern and Central European (ECE countries, with a particular interest on the diagnostic facilities in these countries. Methods Two different strategies were used to collect data on patients with periodic fever syndromes from ECE countries- the Eurofever survey and collection of data with the structured questionnaire. Results Data from 35 centers in 14 ECE countries were collected. All together there were 11 patients reported with genetically confirmed familial Mediterranean fever (FMF, 14 with mevalonate-kinase deficiency (MKD, 11 with tumor necrosis factor receptor associated periodic syndrome (TRAPS and 4 with chronic infantile neurological cutaneous and articular syndrome (CINCA. Significantly higher numbers were reported for suspected cases which were not genetically tested. All together there were 49 suspected FMF patients reported, 24 MKD, 16 TRAPS, 7 CINCA and 2 suspected Muckle-Wells syndrome (MWS patients. Conclusions The number of genetically confirmed patients with periodic fever syndromes in ECE countries is very low. In order to identify more patients in the future, it is important to organize educational programs for increasing the knowledge on these diseases and to establish a network for genetic testing of periodic fever syndromes in ECE countries.

  17. [Münchausen syndrome with forgery on biologic results. A case report].

    Science.gov (United States)

    Thabuy, F; Marzac, C; Renaud, M C; Fardet, L; Tiev, K; Tolédano, C; Texier, P-L; Cabane, J; Kettaneh, A

    2008-11-01

    Münchausen syndrome is a disorder defined by the following: acute factitious symptoms leading to inappropriate investigation and therapy, a restless journey from hospital to hospital and autobiographical falsification. We report here a 20-year-old woman who presented at our hospital consultation of internal medicine with laboratory-test results suggesting the diagnosis of leukemia. A new complete blood cells count and a medullogram by sternal puncture did not show any abnormality. Comparative examination of laboratory-test sheets lead to the diagnosis of Münchausen syndrome as some results had been falsified. With unlimited access to information through internet and word or image processing softwares, laboratory results have become easy to falsify nowadays, particularly for patients with Münchausen syndrome, who may then be quite difficult to diagnose accurately in the context of medical consultation.

  18. Cauda equina syndrome resulting from lumbar arachnoiditis after intracranial subarachnoid hemorrhage: a case report.

    Science.gov (United States)

    Whetstone, Kirk E; Crane, Deborah A

    2013-06-01

    Spinal arachnoiditis is a known but very rare late complication of subarachnoid hemorrhage (SAH). Since 1943, 17 cases of spinal arachnoiditis after intracranial hemorrhage have been reported internationally. The vast majority of these cases were related to aneurysmal SAH. All previously published cases have involved spinal arachnoiditis at the cervical and thoracic levels. In this report, we present an adult woman with lumbar spinal arachnoiditis causing cauda equina syndrome as a result of posterior circulation aneurysmal SAH. We believe this is the first reported case of this specific condition causing cauda equina syndrome. Copyright © 2013 American Academy of Physical Medicine and Rehabilitation. Published by Elsevier Inc. All rights reserved.

  19. Pregnant women's attitudes toward amniocentesis before receiving Down syndrome screening results.

    Science.gov (United States)

    Brajenović-Milić, Bojana; Babić, Ivana; Ristić, Smiljana; Vraneković, Jadranka; Brumini, Gordana; Kapović, Miljenko

    2008-01-01

    We sought to evaluate pregnant women's knowledge about features of second-trimester screening for Down syndrome and to assess whether knowledge and educational level influence their attitude toward amniocentesis before receiving test results. Pregnant Caucasian women (n = 300) indecisive was observed in the group surveyed after prescreening consultation. Indecisiveness was not affected by poor knowledge about screening, but rather by difficulty in knowing how they will feel and what they will do if their screening result is positive.

  20. Strongyloides hyperinfection syndrome in an immunocompetent host resulting in bandemia and death.

    Science.gov (United States)

    Myint, Aung; Chapman, Courtney; Almira-Suarez, Isabel; Mehta, Nupur

    2017-03-22

    Strongyloides stercoralis infection is usually asymptomatic but can result in a hyperinfection syndrome, most commonly triggered by acquired or iatrogenic immunosuppression. Here, we present a case of a man aged 60 years originally from a strongyloides endemic area with a medical history of alcohol abuse who presents with strongyloides hyperinfection syndrome (SHS) complicated by partial small bowel obstruction, pulmonary haemorrhage, large bandemia without eosinophilia and cardiac arrest resulting in death. This case is notable for the presence of bandemia and absence of eosinophilia, lack of historical risk factors for hyperinfection, specifically corticosteroid immunosuppressants, and dramatic decline in clinical status which ultimately resulted in the patient's death. Clinicians should suspect SHS in immunocompetent patients who are from an endemic area and who have persistent gastrointestinal and/or pulmonary manifestations in the absence of a clear cause. 2017 BMJ Publishing Group Ltd.

  1. Treating metabolic syndrome's metaflammation with low level light therapy: preliminary results

    Science.gov (United States)

    Yoshimura, Tania M.; Kato, Ilka T.; Deana, Alessandro M.; Ribeiro, Martha S.

    2014-02-01

    Metabolic syndrome comprises a constellation of morbidities such as insulin resistance, hyperinsulinemia, atherogenic dyslipidemia, dysglycemia and obesity (especially abdominal). Metabolic alterations are observed in major insulin target organs, increasing the risk of cardiovascular diseases, type-2 diabetes and therefore mortality. Tissue alterations are characterized by immune cells infiltrates (especially activated macrophages). Released inflammatory mediators such as TNF-α induce chronic inflammation in subjects with metabolic syndrome, since inflammatory pathways are activated in the neighboring cells. The intra-abdominal adipose tissue appears to be of particular importance in the onset of the inflammatory state, and strategies contributing to modulate the inflammatory process within this adipose tissue can mitigate the metabolic syndrome consequences. Considering the low level light therapy (LLLT) recognized benefits in inflammatory conditions, we hypothesized this therapeutic approach could promote positive effects in modulating the inflammatory state of metabolic syndrome. That being the scope of this study, male C57BL/6 mice were submitted to a high-fat/high-fructose diet among 8 weeks to induce metabolic syndrome. Animals were then irradiated on the abdominal region during 21 days using an 850 nm LED (6 sessions, 300 seconds per session, 60 mW output power, ~6 J/cm2 fluence, ~19 mW/cm2 fluence rate). Before and during treatment, blood was sampled either from the retroorbital plexus or from tail puncture for glucose, total cholesterol and triglycerides analysis. So far our results indicate no alterations on these metabolic parameters after LLLT. For further investigations, blood was collected for plasma inflammatory cytokine quantification and fresh ex vivo samples of liver and intra-abdominal adipose tissue were harvested for immunohistochemistry purposes.

  2. Terson syndrome. Results of vitrectomy and the significance of vitreous hemorrhage in patients with subarachnoid hemorrhage.

    Science.gov (United States)

    Kuhn, F; Morris, R; Witherspoon, C D; Mester, V

    1998-03-01

    The purpose of study A was to assess the effectiveness of vitrectomy for Terson syndrome. The purpose of study B was to determine the incidence and significance of vitreous hemorrhage in patients with subarachnoid hemorrhage. Study A is a retrospective review of case series. Study B is a prospective study. Study A examined a consecutive series of 4 children (7 eyes) and 23 adults (26 eyes). Study B examined a consecutive series of 100 patients. Subjects in study A underwent pars plana vitrectomy for dense vitreous hemorrhage following intracranial hemorrhage. In study B, ophthalmoscopic examination of patients undergoing neurosurgery for ruptured cerebral aneurysms was used. In study A, the extent and rapidity of visual recovery and intraoperative and postoperative complications were examined. In study B, the incidences of intraocular hemorrhage and Terson syndrome in the cohort and the significance of the presence of vitreous hemorrhage in patients with subarachnoid hemorrhage were examined. Study A: There was substantial and rapid visual improvement in 25 of the 26 eyes (96%) of the adult patients, with 21 eyes (81%) achieving > or = 20/30 final visual acuity. Only limited improvement was achieved in children's eyes (Terson syndrome was 8%. All patients with Terson syndrome and 89% of the patients with other types of intraocular hemorrhage had a history of coma compared with 46% of those without intraocular hemorrhage (P = 0.0003). Vitreous hemorrhage in patients surviving subarachnoid hemorrhage appears to be more common than previously thought, underscoring the need for routine funduscopic screening. Surgical intervention is highly effective in hastening visual rehabilitation of adults with Terson syndrome. The less encouraging results in infants may be due to amblyopia or direct brain damage caused by the cerebrovascular incident.

  3. Copperhead Envenomation Resulting in a Rare Case of Hand Compartment Syndrome and Subsequent Fasciotomy.

    Science.gov (United States)

    Brys, Adam K; Gandolfi, Brad M; Levinson, Howard; Gerardo, Charles J

    2015-05-01

    Copperhead bites account for nearly 40% of all snakebites in the United States. Although common, these bites are rarely severe, and most are treated with supportive care and antivenom. We describe the first reported case of a copperhead envenomation resulting in a hand compartment syndrome with measured elevated compartment pressures that necessitated fasciotomy of the hand. Our case underscores the importance of vigilance in the diagnosis and management of copperhead envenomation.

  4. Copperhead Envenomation Resulting in a Rare Case of Hand Compartment Syndrome and Subsequent Fasciotomy

    OpenAIRE

    Brys, Adam K.; Gandolfi, Brad M.; Levinson, Howard; Gerardo, Charles J.

    2015-01-01

    Summary: Copperhead bites account for nearly 40% of all snakebites in the United States. Although common, these bites are rarely severe, and most are treated with supportive care and antivenom. We describe the first reported case of a copperhead envenomation resulting in a hand compartment syndrome with measured elevated compartment pressures that necessitated fasciotomy of the hand. Our case underscores the importance of vigilance in the diagnosis and management of copperhead envenomation.

  5. Transient compartment syndrome of the forearm resulting from venous congestion from a tourniquet.

    Science.gov (United States)

    O'Neil, D; Sheppard, J E

    1989-09-01

    A case of transient compartment syndrome of the forearm resulting from faulty tourniquet function is described. The patient was followed with serial compartmental pressure measurements. Signs and symptoms subsided within a few hours of limb elevation. Thus, conservative care in the early stages may be therapeutic. Early recognition of tourniquet malfunction, systematic assessment of the source of engorgement, and prompt correction can avoid this post-operative complication.

  6. Surgical resection for intractable epilepsy in "double cortex" syndrome yields inadequate results.

    Science.gov (United States)

    Bernasconi, A; Martinez, V; Rosa-Neto, P; D'Agostino, D; Bernasconi, N; Berkovic, S; MacKay, M; Harvey, A S; Palmini, A; da Costa, J C; Paglioli, E; Kim, H I; Connolly, M; Olivier, A; Dubeau, F; Andermann, E; Guerrini, R; Whisler, W; de Toledo-Morrell, L; Morrell, F; Andermann, F

    2001-09-01

    To analyze the results of surgical treatment of intractable epilepsy in patients with subcortical band heterotopia, or double cortex syndrome, a diffuse neuronal migration disorder. We studied eight patients (five women) with double cortex syndrome and intractable epilepsy. All had a comprehensive presurgical evaluation including prolonged video-EEG recordings and magnetic resonance imaging (MRI). All patients had partial seizures, with secondary generalization in six of them. Neurologic examination was normal in all. Three were of normal intelligence, and five were mildly retarded. Six patients underwent invasive EEG recordings, three of them with subdural grids and three with stereotactic implanted depth electrodes (SEEG). Although EEG recordings showed multilobar epileptic abnormalities in most patients, regional or focal seizure onset was recorded in all. MRI showed bilateral subcortical band heterotopia, asymmetric in thickness in three. An additional area of cortical thickening in the left frontal lobe was found in one patient. Surgical procedures included multiple subpial transections in two patients, frontal lesionectomy in one, temporal lobectomy with amygdalohippocampectomy in five, and an additional anterior callosotomy in one. Five patients had no significant improvement, two had some improvement, and one was greatly improved. Our results do not support focal surgical removal of epileptogenic tissue in patients with double cortex syndrome, even in the presence of a relatively localized epileptogenic area.

  7. Surgical treatment results of hand deformities in patients with Apert syndrome

    Directory of Open Access Journals (Sweden)

    Ufuk Nalbantoglu

    2015-12-01

    Results: The mean age at the first operation was 2.7 years and the mean number of operations was 3 per patient. No patient developed graft-flap necrosis and no patients required amputations. All patients were able to perform grasping and pinching functions and families were satisfied with the cosmetic results. Conclusion: Using a two-stage surgical protocol, achieving satisfactory results with a minimal number of operations is possible in patients with Apert Syndrome. [Hand Microsurg 2015; 4(3.000: 53-57

  8. Preliminary results of recurrent cubital tunnel syndrome treated with neurolysis and porcine extracellular matrix nerve wrap.

    Science.gov (United States)

    Papatheodorou, Loukia K; Williams, Benjamin G; Sotereanos, Dean G

    2015-05-01

    To evaluate the clinical results of revision neurolysis and wrapping with porcine extracellular matrix (AxoGuard Nerve Protector, AxoGen Inc., Alachua, FL) for cubital tunnel syndrome after one previous surgical decompression. Twelve patients with recurrent cubital tunnel syndrome were treated with decompression, porcine extracellular matrix nerve wrap, and minimal medial epicondylectomy (if not previously performed). The average follow-up period was 41 months (range, 24-61 mo). All patients had recurrent symptoms after having previously undergone one surgical decompression. The mean patient age was 45 years (range, 30-58 y). All patients were evaluated subjectively and objectively (pain, satisfaction, static 2-point discrimination, grip strength, and pinch strength). A significant improvement was demonstrated in postoperative pain levels (from 8.5 to 1.7), grip strength (from 41% to 86% of the unaffected side), and pinch strength (from 64% to 83% of the unaffected side). Static 2-point discrimination improved from an average 10.4 mm preoperatively to 7.6 mm postoperatively. Eleven of 12 patients demonstrated 2 mm or more improvement in 2-point discrimination postoperatively. There were no complications related to the use of the porcine extracellular matrix for nerve wrapping. This study found that secondary decompression combined with porcine extracellular matrix nerve wrapping was an effective and safe treatment for patients with recurrent cubital tunnel syndrome. Therapeutic IV. Copyright © 2015 American Society for Surgery of the Hand. Published by Elsevier Inc. All rights reserved.

  9. 5 YEAR PHYSIOTHERAPY AND REHABILITATION RESULTS OF THE PATIENT WITH MILLER FISHER SYNDROME

    Directory of Open Access Journals (Sweden)

    Bihter AKINOĞLU

    2016-08-01

    Full Text Available Background: Miller-Fisher syndrome (MFS is characterized by gait ataxia, external ophtalmoplegia and areflexia and thought as an uncommon variant of Guillain Barre syndrome. Miller-Fisher syndrome is observed in about 5-8% of all Guillain Barre syndrome (GBS cases. In MFS patients, spontaneous improvement was observed in the first 3 months and these improvements were started by the 2nd week. Methods: This case was referred to physiotherapy and rehabilitation program at the 4th week since the appropriate medical treatments were unsuccessful after the attack. The patient was evaluated generally before physiotherapy program, and muscle length, strength loss, deep tendon reflexes, postural impairments and daily difficult activities and positions were assessed. Besides, the desired daily activities were identified by The Canadian Occupational Performance Measure (COPM. Treatment program was adjusted according to the patient and changes during treatment period were observed. Physiotherapy program included classical physiotherapy methods: posture correction, correction of short muscles, muscle strengthening, flexibility increase, balance/coordination, sitting and standing functions and walking improvement and climbing up stairs. Results: After the treatment, lower extremity muscle shortness decreased and muscle strength, standing on one foot duration, independent walk speed increased in time. Before treatment, he could not climbing upstairs, but it was achieved 1 year after the treatment. Berg balance score increased in time and his most desired activities by COPM (10/10 were could be performed after the treatment. Conclusion: The case improved with physiotherapy and rehabilitation program gradually with years.In the treatment of MFS patients, physiotherapy and rehabilitation being part of the treatment will be useful.

  10. The impact of Down syndrome screening on Taiwanese Down syndrome births: a nationwide retrospective study and a screening result from a single medical centre.

    Directory of Open Access Journals (Sweden)

    Shin-Yu Lin

    Full Text Available A retrospective analysis of the Taiwanese National Birth Defect Registration and Notification System was conducted in order to determine the live birth- and stillbirth rates in infants with Down syndrome, trisomy 18, trisomy 13 and Turner syndrome between 2001 and 2010. The objective was to investigate the impact of Down syndrome screening on the Taiwanese Down syndrome live birth rate. In addition, the results of first-trimester Down syndrome screening between 2006 and 2011, and of second-trimester quadruple testing between 2008 and 2011, were obtained from the National Taiwan University Hospital. All Taiwanese infants born between 2001 and 2010 were included in the first part of the analysis, and women receiving first-trimester Down syndrome screening or second-trimester quadruple testing from the National Taiwan University Hospital were included in the second part. The live birth rate of infants with Down syndrome, per 100 000 live births, decreased from 22.28 in 2001 to 7.79 in 2010. The ratio of liveborn DS to total DS was 48.74% in 2001, and then decreased to 25.88% in 2006, when first-trimester screening was widely introduced in Taiwan. This ratio dropped to 20.64% in 2008, when the second-trimester quadruple test was implemented. The overall positive rate in first-trimester screening in the National Taiwan University Hospital was 3.1%, with a Down syndrome detection rate of 100%; the quadruple test had values of 9.0% and 75%, respectively. The use of first-trimester screening and the second-trimester quadruple test may be responsible for the marked decrease in the Taiwanese Down syndrome live birth rate observed between 2001 and 2010.

  11. Fanconi syndrome

    Science.gov (United States)

    De Toni-Fanconi syndrome ... Fanconi syndrome can be caused by faulty genes, or it may result later in life due to kidney damage. Sometimes the cause of Fanconi syndrome is unknown. Common causes of Fanconi syndrome in ...

  12. Abnormal thyroid function test results in patients with Fisher-Evans syndrome.

    Science.gov (United States)

    Lio, S; Albin, M; Girelli, G; Perrone, M P; Gandolfo, G; Conti, L; Mazzone, D; D'Armiento, M

    1993-03-01

    Thyroid function was evaluated in patients affected by Fisher-Evans syndrome (FES) and compared to that of patients affected only by autoimmune hemolytic anemia (AIHA) and to that of patients affected only by idiopathic thrombocytopenic purpura (ITP). The study population consisted of 20 patients with FES, 44 with AIHA and 20 with ITP. All patients were examined for thyroid function abnormalities and thyroid autoantibodies. Abnormal thyroid function test results were observed in 40, 25 and 10% of the patients, respectively. The prevalence of antithyroid antibodies (ATA) in FES was 25%; this is higher than the sum of the prevalences of ATA in patients affected only by AIHA (11.4%) or only by ITP (none). Subclinical primary hypothyroidism and hyperthyroxinemia with or without hypertriiodothyroninemia, with TSH serum levels below normal, were present in 20% and 10% of patients affected by FES, respectively. Of the former, 75% were positive for ATA. These results: i) confirm the high prevalence of abnormal thyroid test results in patients affected by AIHA, ITP and FES; ii) demonstrate the higher prevalence of autoimmune hypothyroidism in FES; iii) lead to the possibility of including FES as one of the multiple autoimmune syndromes.

  13. The Clinical Characteristics of Acute Cerebrovascular Accidents Resulting from Ovarian Hyperstimulation Syndrome.

    Science.gov (United States)

    Yang, Shuna; Yuan, Junliang; Qin, Wei; Li, Yue; Yang, Lei; Hu, Wenli

    2017-01-01

    Ovarian hyperstimulation syndrome (OHSS) is a serious complication that occurs after the ovarian-induction treatment. Acute cerebrovascular accident is one of the most dangerous manifestations of the syndrome. However, the characteristics of stroke resulting from OHSS have so far not been well summarised in any study. We reported 2 cases of acute cerebrovascular accidents secondary to OHSS. And then we performed a literature search for reports on this type of stroke, and summarised their characteristics. Thirty-six published cases of this type of stroke were reviewed. Thirty two out of 36 (88.9%) of the women were 35 years old or younger. Stroke in 28 out of 36 (77.8%) of these cases was caused by arterial thrombosis. In 17 out of 28 cases, the involved cerebral vascular branches were mainly middle cerebral artery (MCA) and internal carotid artery (ICA). The acute cerebrovascular accidents happened 7 and 9.25 days after embryo transplantation or 8 and 8.33 days after last human chorionic gonadotropin treatment respectively. The prognosis of patients was relatively good after anticoagulation and some supportive treatments. The MCA and ICA are easily involved in stroke resulting from OHSS. The young age may be a risk factor for developing stroke secondary to OHSS. Once thromboembolism develops, administering appropriate therapy is crucial. © 2017 S. Karger AG, Basel.

  14. Neglect-like symptoms in complex regional pain syndrome: results of a self-administered survey.

    Science.gov (United States)

    Galer, B S; Jensen, M

    1999-09-01

    Reflex sympathetic dystrophy (RSD), recently reclassified as a complex regional pain syndrome, type I (CRPS-I), is best known for its disabling sensory symptoms, including pain, allodynia, and abnormal skin temperature. Yet, motor dysfunction is common in CRPS and can result in major disability. In addition to weakness of the involved limb, CRPS patients may develop symptoms akin to a neurological neglect-like syndrome, whereby the limb may feel foreign ("cognitive neglect") and directed mental and visual attention is needed to move the limb ("motor neglect"). Members of the patient support group, the Reflex Sympathetic Dystrophy Syndrome Association (RSDSA), were mailed a questionnaire inserted in their newsletter which inquired about the presence of these neglect-like symptoms; in addition, a separate medical history questionnaire was included to assess adequate documentation for the diagnosis of CRPS. A total of 242 patients returned the questionnaire but only 224 of the questionnaires were analyzed; 15 were excluded due to inadequate documentation of CRPS and 3 were excluded due to non-limb involvement. Eighty-four percent (84%) of these respondents endorsed the presence of at least one neglect symptom and 47% indicated they had both "cognitive" and "motor" neglect symptoms. Of interest, approximately 33% of respondents spontaneously wrote comments regarding the significant disability due to these neglect symptoms and the difficulty explaining these unusual symptoms to their health care providers and family. This patient survey confirms the presence of neglect-like symptoms in a subset of CRPS patients. Neglect-like symptoms need to be addressed and validated by health care providers.

  15. The clinical aspects of the acute facet syndrome: results from a structured discussion among European chiropractors

    Directory of Open Access Journals (Sweden)

    Jensen Tue

    2009-02-01

    Full Text Available Abstract Background The term 'acute facet syndrome' is widely used and accepted amongst chiropractors, but poorly described in the literature, as most of the present literature relates to chronic facet joint pain. Therefore, research into the degree of consensus on the subject amongst a large group of chiropractic practitioners was seen to be a useful contribution. Methods During the annual congress of The European Chiropractors Union (ECU in 2008, the authors conducted a workshop involving volunteer chiropractors. Topics were decided upon in advance, and the participants were asked to form into groups of four or five. The groups were asked to reach consensus on several topics relating to a basic case of a forty-year old man, where an assumption was made that his pain originated from the facet joints. First, the participants were asked to agree on a maximum of three keywords on each of four topics relating to the presentation of pain: 1. location, 2. severity, 3. aggravating factors, and 4. relieving factors. Second, the groups were asked to agree on three orthopaedic and three chiropractic tests that would aid in diagnosing pain from the facet joints. Finally, they were asked to agree on the number, frequency and duration of chiropractic treatment. Results Thirty-four chiropractors from nine European countries participated. They described the characteristics of an acute, uncomplicated facet syndrome as follows: local, ipsilateral pain, occasionally extending into the thigh with pain and decreased range of motion in extension and rotation both standing and sitting. They thought that the pain could be relieved by walking, lying with knees bent, using ice packs and taking non-steroidal anti-inflammatory drugs, and aggravated by prolonged standing or resting. They also stated that there would be no signs of neurologic involvement or antalgic posture and no aggravation of pain from sitting, flexion or coughing/sneezing. Conclusion The chiropractors

  16. Long-Term Prognosis of Patients Diagnosed With Brugada Syndrome Results From the FINGER Brugada Syndrome Registry

    NARCIS (Netherlands)

    Probst, V.; Veltmann, C.; Eckardt, L.; Meregalli, P. G.; Gaita, F.; Tan, H. L.; Babuty, D.; Sacher, F.; Giustetto, C.; Schulze-Bahr, E.; Borggrefe, M.; Haissaguerre, M.; Mabo, P.; Le Marec, H.; Wolpert, C.; Wilde, A. A. M.

    2010-01-01

    Background-Brugada syndrome is characterized by ST-segment elevation in the right precordial leads and an increased risk of sudden cardiac death (SCD). Fundamental questions remain on the best strategy for assessing the real disease-associated arrhythmic risk, especially in asymptomatic patients.

  17. Metabolic Syndrome and Hypertension Resulting from Fructose Enriched Diet in Wistar Rats

    Directory of Open Access Journals (Sweden)

    Julie Dupas

    2017-01-01

    Full Text Available Increased sugar consumption, especially fructose, is strongly related to the development of type 2 diabetes (T2D and metabolic syndrome. The aim of this study was to evaluate long term effects of fructose supplementation on Wistar rats. Three-week-old male rats were randomly divided into 2 groups: control (C; n=14 and fructose fed (FF; n=18, with a fructose enriched drink (20–25% w/v fructose in water for 21 weeks. Systolic blood pressure, fasting glycemia, and bodyweight were regularly measured. Glucose tolerance was evaluated three times using an oral glucose tolerance test. Insulin levels were measured concomitantly and insulin resistance markers were evaluated (HOMA 2-IR, Insulin Sensitivity Index for glycemia (ISI-gly. Lipids profile was evaluated on plasma. This fructose supplementation resulted in the early induction of hypertension without renal failure (stable theoretical creatinine clearance and in the progressive development of fasting hyperglycemia and insulin resistance (higher HOMA 2-IR, lower ISI-gly without modification of glucose tolerance. FF rats presented dyslipidemia (higher plasma triglycerides and early sign of liver malfunction (higher liver weight. Although abdominal fat weight was increased in FF rats, no significant overweight was found. In Wistar rats, 21 weeks of fructose supplementation induced a metabolic syndrome (hypertension, insulin resistance, and dyslipidemia but not T2D.

  18. Lithium Toxicity and Neurologic Effects: Probable Neuroleptic Malignant Syndrome Resulting from Lithium Toxicity

    Directory of Open Access Journals (Sweden)

    Osamede Edokpolo

    2012-01-01

    Full Text Available Introduction. We present the case of a patient who developed lithium toxicity with normal therapeutic levels, as a result of pharmacokinetic interaction with Valsartan, and probable Neuroleptic Malignant Syndrome from the ensuing lithium toxicity. Case Presentation. A 59-year old black male with bipolar disorder maintained on lithium and fluphenazine therapy presented with a 2 week history of worsening confusion, tremor, and gait abnormality. He recently had his dose of Valsartan increased. At presentation, patient had signs of autonomic instability, he was confused, dehydrated, and had rigidity of upper extremities. Significant labs on admission were lithium level-1.2, elevated CK-6008, leukocytosis WBC-22, and renal impairment; Creatinine-4.1, BUN-35, HCO3-20.1, and blood glucose 145. CT/MRI brain showed old cerebral infarcts, and there was no evidence of an infective process. Lithium and fluphenazine were discontinued, his lithium levels gradually decreased, and he improved with supportive treatment including rehydration and correction of electrolyte imbalance. Conclusions. This case illustrates that lithium toxicity can occur within therapeutic levels, and the neurotoxic effect of lithium can include Neuroleptic Malignant Syndrome. Clinicians should be aware of the risk associated with drug interactions with lithium.

  19. Excellent long-term results with iliac stenting in local anesthesia for post-thrombotic syndrome

    DEFF Research Database (Denmark)

    Klitfod, Lotte; Just, Sven; Foegh, Pia

    2015-01-01

    BACKGROUND: Only 20% of iliac veins will recanalize on anticoagulation (AC) treatment alone and may, therefore, develop venous obstruction after iliofemoral deep venous thrombosis (DVT). A considerable number of these patients will suffer from post-thrombotic syndrome (PTS) leading to impaired...... quality of life in more than 50%. Endovascular treatment for iliac vein obstruction using stents is known to alleviate PTS symptoms in selected patients. PURPOSE: To report the Danish long-term results of endovascular treatment with iliac stenting. MATERIAL AND METHODS: From 2000 to 2013 consecutive...... at 6 weeks, 3 months, and annually thereafter. RESULTS: Nineteen patients, all women, all with left-sided iliac vein obstruction, and all with severe PTS symptoms were included. The median follow-up time was 81 months (range, 1-146 months; mean, 69 months). Primary patency rate of the inserted iliac...

  20. Early detection of Angelman syndrome resulting from de novo paternal isodisomic 15q UPD and review of comparable cases

    OpenAIRE

    Horv?th, Emese; Horv?th, Zsuzsanna; Isaszegi, D?ra; Gergev, Gyurgyinka; Nagy, Nikoletta; Szab?, J?nos; Sztriha, L?szl?; Sz?ll, M?rta; Endreffy, Em?ke

    2013-01-01

    Background Angelman syndrome is a rare neurogenetic disorder that results in intellectual and developmental disturbances, seizures, jerky movements and frequent smiling. Angelman syndrome is caused by two genetic disturbances: either genes on the maternally inherited chromosome 15 are deleted or inactivated or two paternal copies of the corresponding genes are inherited (paternal uniparental disomy). A 16-month-old child was referred with minor facial anomalies, neurodevelopmental delay and s...

  1. The interrelation between premenstrual syndrome and major depression: Results from a population-based sample

    Directory of Open Access Journals (Sweden)

    Weiss Carine

    2011-10-01

    Full Text Available Abstract Background Research about the relationship between premenstrual syndrome (PMS and major depression is limited. This study examined the relationship between moderate to severe PMS and major depression in a population-based sample of women of reproductive age. The objectives of the study were to assess the association between premenstrual syndrome and major depression, to analyse how PMS and major depression differ and to characterise the group of women who report both PMS and major depression. Methods Data were obtained from the Swiss Health Survey 2007. Included in the analysis was data from women under the age of 55 without hysterectomy and who answered the questions on PMS symptoms. The population-based sample consisted of 3518 women. Weighted prevalence rates were calculated and relative risk ratios for PMS, major depression and women who reported both PMS and major depression, were calculated with logistic multinominal logit regression. Results The prevalence of major depression was 11.3% in women screening positive for moderate PMS and 24.6% in women screening positive for severe PMS. Compared to women without any of these conditions, women who reported moderate to severe alcohol consumption had a lower risk for PMS. Women reporting use of antidepressants, and use of oral contraceptives had a higher risk for major depression compared to women without any of these conditions. Women reporting work dissatisfaction had a higher risk for PMS. A higher relative risk to report both PMS and major depression compared to women without PMS or major depression was related to factors such as high psychological distress, low mastery, psychotropic drug consumption, and low self-rated health. Conclusions The results suggested that women who suffer from both PMS and major depression are more impaired compared to women with only one disorder. The results further indicated that PMS and major depression are different disorders that can, however, co-occur.

  2. Pseudotumor Cerebri Resulting in Empty Sella Syndrome and Multiple Pituitary Hormone Deficiencies

    Science.gov (United States)

    2017-09-16

    34 ~ ~ ~,,, "’vs l!?~ We present a case of PTC with empty sella syndrome and multiple pituitary hormone deficiencies that was undiagnosed for several ...REPORT TYPE 09/16/2017 Poster 4. TITLE AND SUBTITLE Pseudotu1nor Cercbri Rc~ulling in E1npty ~ella Syndrome and J\\ilultiple Pituitary Honnone...specific neurologic symptoms or more rarely with pitu itary dysfunction. This case highlights a patient with PTC and secondary empty sella syndrome whose

  3. Spine deformities in patients with Ehlers-Danlos syndrome, type IV - late results of surgical treatment

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    Tesiorowski Maciej

    2010-11-01

    Full Text Available Abstract Background Spinal deformities in Ehlers-Danlos syndrome are usually progressive and may require operative treatment. There is limited number of studies describing late results of surgery in this disease. Methods This is a retrospective study of the records of 11 patients with Ehlers-Danlos syndrome type IV, treated surgically between 1990 and 2007. All patients underwent surgical treatment for spinal deformity. Duration of operation, type of instrumentation, intraoperative blood loss, complications and number of additional surgeries were noted. Radiographic measurement was performed on standing AP and lateral radiographs acquired before surgery, just after and at final follow up. Results The mean follow up period was 5.5 ± 2.9 years (range 1-10 years. The mean preoperative thoracic and lumbar curve were 109.5 ± 19.9° (range 83° - 142° and 75.6 ± 26.7° (range 40° - 108° respectively. Posterior spine fusion alone was performed on 6 patients and combined anterior and posterior fusion (one- or two stage on 5 cases. Posterior segmental spinal instrumentation was applied with use of hooks, screws and wires. The mean postoperative thoracic and lumbar curve improved to 79.3 ± 16.1° (range 56° - 105° and 58.5 ± 27.7° (range 10° - 95° respectively, with a slight loss of correction during follow up. The average thoracic and lumbar correction was 26.4 ± 14.9% (range 5.3 - 50.4% and 26.3 ± 21.2% (range 7.9 - 75%. Postoperatively, the mean kyphosis was 79.5 ± 40.3° (range 21° -170°, and lordosis was 50.8 ± 18.6° (range 20° -79°. Hyperkyphosis increased during follow up while lordosis remained stable. Mean Th12-L2 angle was -3.5 ±9.9° (range -19° - 15° postoperatively and did not change significantly during follow up. Conclusions Huge spinal deformities in patients with Ehlers-Danlos syndrome require complex and extensive surgery. There is a big risk of sagittal imbalance in this group.

  4. Spine deformities in patients with Ehlers-Danlos syndrome, type IV - late results of surgical treatment

    Science.gov (United States)

    2010-01-01

    Background Spinal deformities in Ehlers-Danlos syndrome are usually progressive and may require operative treatment. There is limited number of studies describing late results of surgery in this disease. Methods This is a retrospective study of the records of 11 patients with Ehlers-Danlos syndrome type IV, treated surgically between 1990 and 2007. All patients underwent surgical treatment for spinal deformity. Duration of operation, type of instrumentation, intraoperative blood loss, complications and number of additional surgeries were noted. Radiographic measurement was performed on standing AP and lateral radiographs acquired before surgery, just after and at final follow up. Results The mean follow up period was 5.5 ± 2.9 years (range 1-10 years). The mean preoperative thoracic and lumbar curve were 109.5 ± 19.9° (range 83° - 142°) and 75.6 ± 26.7° (range 40° - 108°) respectively. Posterior spine fusion alone was performed on 6 patients and combined anterior and posterior fusion (one- or two stage) on 5 cases. Posterior segmental spinal instrumentation was applied with use of hooks, screws and wires. The mean postoperative thoracic and lumbar curve improved to 79.3 ± 16.1° (range 56° - 105°) and 58.5 ± 27.7° (range 10° - 95°) respectively, with a slight loss of correction during follow up. The average thoracic and lumbar correction was 26.4 ± 14.9% (range 5.3 - 50.4%) and 26.3 ± 21.2% (range 7.9 - 75%). Postoperatively, the mean kyphosis was 79.5 ± 40.3° (range 21° -170°), and lordosis was 50.8 ± 18.6° (range 20° -79°). Hyperkyphosis increased during follow up while lordosis remained stable. Mean Th12-L2 angle was -3.5 ±9.9° (range -19° - 15°) postoperatively and did not change significantly during follow up. Conclusions Huge spinal deformities in patients with Ehlers-Danlos syndrome require complex and extensive surgery. There is a big risk of sagittal imbalance in this group. PMID:21108838

  5. Lemierre's syndrome resulting from streptococcal induced otitis media and mastoiditis: a case report

    Directory of Open Access Journals (Sweden)

    Harris Che M

    2009-04-01

    Full Text Available Abstract Introduction Lemierre's syndrome is an extremely rare and almost universally fatal disease characterized as thrombophlebitis of the internal jugular venous system with subsequent metastatic infection. Fusobacterium necrophorum is the most common organism implicated in causation of Lemierre's syndrome. Group A Streptococcus has mainly been observed as a polymicrobial organism in the syndrome. We report a rare finding of a rare disease where Group A Streptococcus was the sole organism triggering Lemierre's syndrome. To our knowledge, this is only the third recorded patient with such an occurrence. Case presentation We describe a 9-year-old African American boy, who presented with otitis media and mastoiditis that culminated in Lemierre's syndrome. Isolates bore only Group A Streptococcus. The patient was appropriately treated and responded with full recovery from the syndrome. Conclusion Since Lemierre's syndrome is classically detected by clinical diagnosis, these findings should prompt clinicians to consider Group A Streptococcus as an alternative catalyst. It should be pondered that patients who present with typical Group A streptococcal infections have the possibility for developing Lemierre's syndrome. Though this complication appears to be rare, early diagnosis and prompt intervention have proven critical in survival outcome. Indeed, what would seem to be a routine case of strep throat or otitis media easily treated with antibiotics could end up being an unalterable progression to death unless Lemierre's syndrome is immediately diagnosed and treated.

  6. [Imminent respiratory insufficiency in children resulting from Guillain-Barré syndrome].

    Science.gov (United States)

    de Wit, Marie-Claire Y; Roodbol, Joyce; de Hoog, Matthijs; Catsman-Berrevoets, Coriene E; Jacobs, Bart C

    2011-01-01

    Early recognition of Guillain-Barré syndrome (GBS) is crucial to anticipate and adequately respond to possible respiratory insufficiency. Young children with GBS frequently have non-specific complaints and are more difficult to examine, which may cause a significant delay in diagnosing GBS. We present 3 children, all boys, aged 22 months, 7 years and 4 years respectively, with GBS in whom the diagnosis was missed upon admission, resulting in a failure to appreciate the risk of acute respiratory insufficiency. Two children had to undergo emergency intubation, and one of these cases had a fatal outcome. Young children with GBS often present with pain and refusal to walk, or with difficulty swallowing, and are often initially misdiagnosed with e.g. tonsillitis or coxitis. These nonspecific symptoms can be a first sign of a progressive polyradiculoneuropathy and should prompt a full neurological examination and timely referral to a paediatric neurological centre with Intensive Care facilities.

  7. [Clinical findings of the patients with sick building syndrome and the results of environmental measurement].

    Science.gov (United States)

    Yoshida, Tatsuo; Ogawa, Masanori; Goto, Hiroyuki; Ohshita, Ayumi; Kurose, Naoko; Yokosawa, Fumiko; Hirata, Mamoru; Endo, Yoko

    2011-01-01

    Although many survey reports on sick house syndrome have been published, few clinical studies have reported sick building syndrome (SBS) in Japan. We examined patients with SBS-like complaints by clinical observation and made environment measurements. The subjects of our study were 11 office workers (2 men and 9 women) who visited our hospital because of poor physical condition after the construction and painting of a fireproof vault in their office. We performed a medical interview, biochemical examinations of blood, immunological tests, pulmonary function tests, and psychological tests. The environment in the office was evaluated 3 times at 27, 55, and 132 days after the cessation of vault construction. A questionnaire survey was distributed to the workers who did not visit our hospital. The workers resumed work 9 days after the end of construction: Shortly after the resumption of work, most of the workers smelled a bad odor, and complained of headache, malaise, disturbed concentration, and eye irritation. Acrylic resin paint was used for painting the vault, and the concentrations of toluene, xylene, and total volatile organic compounds (T-VOC) on day 27 after painting were 2,972, 2,610, and 7,100 μg/m³, respectively. One hundred and thirty-two days after painting, the concentrations of toluene, xylene, and T-VOC decreased to unscented levels of 78, 113, and 261 μg/m³, respectively. Seven females among the eleven patients were diagnosed as having SBS on the basis of the time of the onset of the symptoms, negative results of allergy and other organic diseases, and the results of the environment measurements. From the responses of the other workers (22 men and 1 woman) to the survey questionnaire, the development and the disappearance of complaints, such as bad odor and unpleasantness, agreed with change of the level of toluene in the vault, which confirmed the validity of the SBS diagnosis.

  8. Familial cryptic translocation resulting in Angelman syndrome: Implications for imprinting or location of the Angelman gene?

    Energy Technology Data Exchange (ETDEWEB)

    Burke, L.W.; Wiley, J.E.; Smith, A.J.W.; Kushnick, T. [East Carolina Univ. School of Medicine, Greenville, NC (United States)] [and others

    1996-04-01

    Angelman syndrome (AS) is associated with a loss of maternal genetic information, which typically occurs as a result of a deletion at 15q11-q13 or paternal uniparental disomy of chromosome 15. We report a patient with AS as a result of an unbalanced cryptic translocation whose breakpoint, at 15q11.2, falls within this region. The proband was diagnosed clinically as having Angelman syndrome, but without a detectable cytogenetic deletion, by using high-resolution G-banding. FISH detected a deletion of D15S11 (IR4-3R), with an intact GABRB3 locus. Subsequent studies of the proband`s mother and sister detected a cryptic reciprocal translocation between chromosomes 14 and 15 with the breakpoint being between SNRPN and D15S10. The proband was found to have inherited an unbalanced form, being monosomic from 15pter through SNRPN and trisomic for 14pter to 14q11.2. DNA methylation studies showed that the proband had a paternal-only DNA methylation pattern at SNRPN, D15S63 (PW71), and ZNF127. The mother and unaffected sister, both having the balanced translocation, demonstrated normal DNA methylation patterns at all three loci. These data suggest that the gene for AS most likely lies proximal to D15S10, in contrast to the previously published position, although a less likely possibility is that the maternally inherited imprinting center acts in trans in the unaffected balanced translocation carrier sister. 27 refs., 6 figs.

  9. Space-time analysis of Down syndrome: results consistent with transient pre-disposing contagious agent.

    Science.gov (United States)

    McNally, Richard J Q; Rankin, Judith; Shirley, Mark D F; Rushton, Stephen P; Pless-Mulloli, Tanja

    2008-10-01

    Whilst maternal age is an established risk factor for Patau syndrome (trisomy 13), Edwards syndrome (trisomy 18) and Down syndrome (trisomy 21), the aetiology and contribution of genetic and environmental factors remains unclear. We analysed for space-time clustering using high quality fully population-based data from a geographically defined region. The study included all cases of Patau, Edwards and Down syndrome, delivered during 1985-2003 and resident in the former Northern Region of England, including terminations of pregnancy for fetal anomaly. We applied the K-function test for space-time clustering with fixed thresholds of close in space and time using residential addresses at time of delivery. The Knox test was used to indicate the range over which the clustering effect occurred. Tests were repeated using nearest neighbour (NN) thresholds to adjust for variable population density. The study analysed 116 cases of Patau syndrome, 240 cases of Edwards syndrome and 1084 cases of Down syndrome. There was evidence of space-time clustering for Down syndrome (fixed threshold of close in space: P = 0.01, NN threshold: P = 0.02), but little or no clustering for Patau (P = 0.57, P = 0.19) or Edwards (P = 0.37, P = 0.06) syndromes. Clustering of Down syndrome was associated with cases from more densely populated areas and evidence of clustering persisted when cases were restricted to maternal age <40 years. The highly novel space-time clustering for Down syndrome suggests an aetiological role for transient environmental factors, such as infections.

  10. Current discharge management of acute coronary syndromes: baseline results from a national quality improvement initiative.

    Science.gov (United States)

    Wai, A; Pulver, L K; Oliver, K; Thompson, A

    2012-05-01

    Evidence-practice gaps exist in the continuum of care for patients with acute coronary syndromes (ACS), particularly at hospital discharge. We aimed to describe the methodology and baseline results of the Discharge Management of Acute Coronary Syndromes (DMACS) project, focusing on the prescription of guideline-recommended medications, referral to cardiac rehabilitation and communication between the hospital, patient and their primary healthcare professionals. DMACS employed Drug Use Evaluation methodology involving data collection, evaluation and feedback, and targeted educational interventions. Adult patients with ACS discharged during a 4-month period were eligible to participate. Data were collected (maximum 50 patients) at each site through an inpatient medical record review, a general practitioner (GP) postal/fax survey conducted 14 days post discharge and a patient telephone survey 3 months post discharge. Forty-nine hospitals participated in the audit recruiting 1545 patients. At discharge, 57% of patients were prescribed a combination of antiplatelet agent(s), beta-blocker, statin and angiotensin-converting enzyme inhibitor and/or angiotensin II-antagonist. At 3 months post discharge, 48% of patients reported using the same combination. Some 67% of patients recalled being referred to cardiac rehabilitation; of these, 33% had completed the programme. In total, 83% of patients had a documented ACS management plan at discharge. Of these, 90% included a medication list, 56% a chest pain action plan and 54% risk factor modification advice. Overall, 65% of GPs rated the quality of information received in the discharge summary as 'very good' to 'excellent'. The findings of our baseline audit showed that despite the robust evidence base and availability of national guidelines, the management of patients with ACS can be improved. These findings will inform a multifaceted intervention strategy to improve adherence to guidelines for the discharge management of

  11. Urogenital involvement in the Klippel-Trenaunay-Weber syndrome: treatment options and results

    Directory of Open Access Journals (Sweden)

    Fabio C. Vicentini

    2006-12-01

    Full Text Available OBJECTIVE: Klippel-Trenaunay-Weber syndrome (KTWS is a congenital condition characterized by vascular malformations of the capillary, venous and lymphatic systems associated to soft tissue and bone hypertrophy in the affected areas. This syndrome may involve bladder, kidney, urethra, ureter and genitals. We report the treatment of 7 KTWS patients with urogenital involvement. MATERIALS AND METHODS: From 1995 to 2005, 7 patients with KTWS were evaluated and the charts of these patients were reviewed. RESULTS: Patients’ median age was 19-years (range 4 to 46-years and only 1 was female. The clinical presentation included genital deformities in 3 cases, hematuria in 2 and urethrorragia in 2, one of which associated with cryptorchidism and phimosis. Three patients had an association of pelvic and genital malformations, including 2 patients with hematuria due to vesical lesions and 1 patient with left ureterohydronephrosis due to a pelvic mass. Two patients had urethral lesions. Treatment included endoscopic laser coagulation for 1 patient with recurrent hematuria and 1 patient with urethrorrhagia, pelvic radiotherapy for 1 patient with hematuria and circumcision in 2 patients with genital deformities. One patient required placement of a double-J catheter to relieve obstruction. Hematuria and urethrorragia were safely and effectively controlled with laser applications. Circumcision was also effective. The patient treated with radiotherapy developed a contracted bladder and required a continent urinary diversion. CONCLUSIONS: Urogenital involvement in patients with KTWS is not rare and must be suspected in the presence of hematuria or significant cutaneous deformity of the external genitalia. Surgical treatment may be warranted in selected cases.

  12. Physicians' communication of Down syndrome screening test results: the influence of physician numeracy.

    Science.gov (United States)

    Anderson, Britta L; Obrecht, Natalie A; Chapman, Gretchen B; Driscoll, Deborah A; Schulkin, Jay

    2011-08-01

    We investigated three questions: (1) How do obstetrician-gynecologists communicate positive and negative test results? (2) When reporting screening test results, do obstetrician-gynecologists use quantitative or qualitative information? and (3) Is physician numeracy (i.e., the ability to use and understand numbers) associated with use of quantitative or qualitative information? Obstetrician-gynecologists (N = 203; 55.6% response rate) who were members of the American College of Obstetricians and Gynecologists completed a survey about their communication of Down syndrome screening test results, an Objective Numeracy Scale, and the Subjective Numeracy Scale. Higher scores on the Subjective Numeracy Scale and younger age predicted obstetrician-gynecologists' use of numbers to explain testing results. The Objective Numeracy Scale did not predict use of numbers. Gender was correlated with scores on the Subjective Numeracy Scale (r = 0.2) and the Subjective Numeracy Scale-Ability Subscale (r = 0.3), with men scoring higher than women when controlling for age. Open-ended questions revealed that communication strategies vary, with approximately one in three obstetrician-gynecologists providing numerical information, and frequency format being the commonly used numerical format. Although physicians are often overlooked in the problem of low health literacy, it is important that we continue to investigate the impact of physician numeracy on patient care.

  13. CPAP treatment in the coexistence of obstructive sleep apnea syndrome and metabolic syndrome, results of one year follow up.

    Science.gov (United States)

    Oktay, B; Akbal, E; Firat, H; Ardiç, S; Kizilgun, M

    2009-01-01

    To investigate the effect of one year continuous positive airway pressure (CPAP) treatment on metabolic syndrome (MS) prevalence and components in patients diagnosed with both obstructive sleep apnea syndrome (OSAS) and metabolic syndrome. This was a single center, observational prospective cohort study. 38 patients who were diagnosed with OSAS after polysomnographic analysis in sleep laboratory and diagnosed with MS according to National Cholesterol Education Program Adult Treatment Panel III (NCEP ATP III) guideline and underwent CPAP treatment were followed for one year. After the 1 year of follow up period on CPAP treatment, the prevalence of MS was evaluated again. 20 (13 male, 7 female) of 38 patients completed the entire study. Mean age was 50+/-7.7.4 patients were under treatment for diabetes mellitus (DM), 9 for hypertension (HT). After one year of follow up on CPAP treatment, the prevalence of MS decreased by 45%. When each components of MS were evaluated, no significant difference was found in fasting blood glucose, triglyceride levels and systolic and diastolic blood pressure after treatment (p>0.05). However, significant difference was observed in waist circumference (p=0.002), HDL cholesterol (p=0.001) and BMI (p=0.01) after treatment. If MS accompanies OSAS, which is a cardiovascular risk factor by itself, treatment indications of CPAP should be reevaluated. Thus, if OSA patients meet the criteria of MS even though they do not have obvious DM, HT and hyperlipidemia, initiating CPAP treatment at lower AHI levels may contribute to the prevention and development of cardiovascular disease.

  14. The NOD2 defect in Blau syndrome does not result in excess interleukin-1 activity.

    Science.gov (United States)

    Martin, Tammy M; Zhang, Zili; Kurz, Paul; Rosé, Carlos D; Chen, Hong; Lu, Huiying; Planck, Stephen R; Davey, Michael P; Rosenbaum, James T

    2009-02-01

    Blau syndrome is a rare, autosomal-dominant, autoinflammatory disorder characterized by granulomatous arthritis, uveitis, and dermatitis. Genetics studies have shown that the disease is caused by single nonsynonymous substitutions in NOD-2, a member of the NOD-like receptor or NACHT-leucine-rich repeat (NLR) family of intracellular proteins. Several NLRs function in the innate immune system as sensors of pathogen components and participate in immune-mediated cellular responses via the caspase 1 inflammasome. Mutations in a gene related to NOD-2, NLRP3, are responsible for excess caspase 1-dependent interleukin-1beta (IL-1beta) in cryopyrinopathies such as Muckle-Wells syndrome. Furthermore, functional studies demonstrate that caspase 1-mediated release of IL-1beta also involves NOD-2. The aim of this study was to test the hypothesis that IL-1beta may mediate the inflammation seen in patients with Blau syndrome. IL-1beta release was measured in peripheral blood mononuclear cells cultured in vitro, obtained from 5 Blau syndrome individuals with a NOD2 (CARD15) mutation. We observed no evidence for increased IL-1beta production in cells obtained from subjects with Blau syndrome compared with healthy control subjects. Furthermore, we presented 2 cases of Blau syndrome in which recombinant human IL-1 receptor antagonist (anakinra) was ineffective treatment. Taken together, these data suggest that in contrast to related IL-1beta-dependent autoinflammatory cryopyrinopathies, Blau syndrome is not mediated by excess IL-1beta or other IL-1 activity.

  15. Paternal germline mosaicism of a SCN2A mutation results in Ohtahara syndrome in half siblings.

    Science.gov (United States)

    Zerem, Ayelet; Lev, Dorit; Blumkin, Lubov; Goldberg-Stern, Hadassa; Michaeli-Yossef, Yael; Halevy, Ayelet; Kivity, Sara; Nakamura, Kazuyuki; Matsumoto, Naomichi; Leshinsky-Silver, Esther; Saitsu, Hirotomo; Lerman-Sagie, Tally

    2014-09-01

    Ohtahara syndrome is a devastating early infantile epileptic encephalopathy caused by mutations in different genes. We describe a patient with Ohtahara syndrome who presented on the first day of life with refractory tonic seizures and a suppression-burst pattern on EEG. The patient developed severe microcephaly, and never achieved any developmental milestones. He died at the age of 5 years. A de novo missense mutation (c. 4007C>A, p.S1336Y) in SCN2A was found. Interestingly, the father has another son with Ohtahara syndrome from a different mother. The half brother carries the same SCN2A mutation, strongly suggesting paternal gonadal mosaicism of the mutation. The broad clinical spectrum of SCN2A mutations now includes Ohtahara syndrome. This is the first report of familial Ohtahara syndrome due to a germline mosaic SCN2A mutation. Somatic mosaicism, including germline, has been described in several epileptic encephalopathies such as Dravet syndrome, KCNQ2 neonatal epileptic encephalopathy, SCN8A epileptic encephalopathy and STXBP1 related Ohtahara syndrome. Mosaicism should be considered as one of the important inheritance patterns when counseling parents with a child with these devastating diseases. Copyright © 2014 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.

  16. The impact of imprinting: Prader-Willi syndrome resulting from chromosome translocation, recombination, and nondisjunction

    Energy Technology Data Exchange (ETDEWEB)

    Toth-Fejel, S.; Olson, S.; Gunter, K. [Oregon Health Sciences Univ., Portland, OR (United States)] [and others

    1996-05-01

    Prader-Willi syndrome (PWS) is most often the result of a deletion of bands q11.2-q13 of the paternally derived chromosome 15, but it also occurs either because of maternal uniparental disomy (UPD) of this region or, rarely, from a methylation imprinting defect. A significant number of cases are due to structural rearrangements of the pericentromeric region of chromosome 15. We report two cases of PWS with UPD in which there was a meiosis I nondisjunction error involving an altered chromosome 15 produced by both a translocation event between the heteromorphic satellite regions of chromosomes 14 and 15 and recombination. In both cases, high-resolution banding of the long arm was normal, and FISH of probes D15S11, SNRPN, D15S10, and GABRB3 indicated no loss of this material. Chromosome heteromorphism analysis showed that each patient had maternal heterodisomy of the chromosome 15 short arm, whereas PCR of microsatellites demonstrated allele-specific maternal isodisomy and heterodisomy of the long arm. SNRPN gene methylation analysis revealed only a maternal imprint in both patients. We suggest that the chromosome structural rearrangements, combined with recombination in these patients, disrupted normal segregation of an imprinted region, resulting in uniparental disomy and PWS. 30 refs., 6 figs., 1 tab.

  17. Our results of mini open approach in patients with carpal tunnel syndrome

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    Azad Yıldırım

    2015-12-01

    Full Text Available Objective: In this study, we aimed to evaluate the results of patients underwent surgical release with mini open surgical method due to Carpal tunnel syndrome (CTS and the surgical technique. Methods: 50 wrists of the 42 patients that we could reach after they were applied mini open surgical method between 2009- 2013 were analyzed retrospectively. After surgery, patients were followed for an average 47.4 months. CTS was detected in 26 of the patients in right hand, in 10 of the patients in left hand and in seven of them bilaterally. In 27 Preoperative patients advanced in 21 intermediate and in 2 mild Electromyography (EMG findings compliant with CTS were found. Results: We did not apply a second operation to any of our patients. None of the patients showed any post operative sensitivity on scar tissue and there was no neurovascular damage in any patients during the surgery. The patients returned to their daily activities average on the 10th day after the surgery [range 7-15 days]. In their follow up EMG was not done on a routine basis to the patients. Patients were followed clinically. Conclusion: The advantages of the surgery process we conducted with over pillar mini incision compared to other techniques that there is less pillar region pain and less scar tenderness, shorter return to work and the technique is efficient, cheap and easy to apply.

  18. Endovascular Treatment of Malignant Superior Vena Cava Syndrome: Results and Predictive Factors of Clinical Efficacy

    Energy Technology Data Exchange (ETDEWEB)

    Fagedet, Dorothee, E-mail: DFagedet@chu-grenoble.fr [CHU de Grenoble, Clinique universitaire de medecine interne, Pole Pluridisciplinaire de Medecine (France); Thony, Frederic, E-mail: FThony@chu-grenoble.fr [CHU de Grenoble, Clinique universitaire de radiologie et imagerie medicale, Pole d' Imagerie (France); Timsit, Jean-Francois, E-mail: JFTimsit@chu-grenoble.fr [CHU de Grenoble, Clinique universitaire de reanimation, Pole Medecine Aiguee Communautaire (France); Rodiere, Mathieu, E-mail: MRodiere@chu-grenoble.fr [CHU de Grenoble, Clinique universitaire de radiologie et imagerie medicale, Pole d' Imagerie (France); Monnin-Bares, Valerie, E-mail: v-monnin@chu-montpellier.fr [CHRU Arnaud de Villeneuve, Imagerie Medicale Thoracique Cardiovasculaire (France); Ferretti, Gilbert R., E-mail: GFerretti@chu-grenoble.fr [CHU de Grenoble, Clinique universitaire de radiologie et imagerie medicale, Pole d' Imagerie (France); Vesin, Aurelien; Moro-Sibilot, Denis, E-mail: DMoro.pneumo@chu-grenoble.fr [University Grenoble 1 e Albert Bonniot Institute, Inserm U823 (France)

    2013-02-15

    To demonstrate the effectiveness of endovascular treatment (EVT) with self-expandable bare stents for malignant superior vena cava syndrome (SVCS) and to analyze predictive factors of EVT efficacy. Retrospective review of the 164 patients with malignant SVCS treated with EVT in our hospital from August 1992 to December 2007 and followed until February 2009. Endovascular treatment includes angioplasty before and after stent placement. We used self-expandable bare stents. We studied results of this treatment and looked for predictive factors of clinical efficacy, recurrence, and complications by statistical analysis. Endovascular treatment was clinically successful in 95% of cases, with an acceptable rate of early mortality (2.4%). Thrombosis of the superior vena cava was the only independent factor for EVT failure. The use of stents over 16 mm in diameter was a predictive factor for complications (P = 0.008). Twenty-one complications (12.8%) occurred during the follow-up period. Relapse occurred in 36 patients (21.9%), with effective restenting in 75% of cases. Recurrence of SVCS was significantly increased in cases of occlusion (P = 0.01), initial associated thrombosis (P = 0.006), or use of steel stents (P = 0.004). Long-term anticoagulant therapy did not influence the risk of recurrence or complications. In malignancy, EVT with self-expandable bare stents is an effective SVCS therapy. These results prompt us to propose treatment with stents earlier in the clinical course of patients with SVCS and to avoid dilatation greater than 16 mm.

  19. Results after simple decompression of the ulnar nerve in cubital tunnel syndrome

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    Harder, Kristina

    2015-12-01

    Full Text Available Cubital tunnel syndrome represents the second most common compression neuropathy of the upper limb. For more than four decades there has been a controversy about the best surgical treatment modality for cubital tunnel syndrome. In this study the results of 28 patients with simple ulnar nerve decompression are presented. Data analyses refers to clinical examination, personal interview, DASH-questionnaire, and electrophysiological measurements, which were assessed pre- and postoperatively.28 patients (15 females, 13 males were included in this study. The average age at time of surgery was 47.78 years (31.68–73.10 years. The period from onset of symptoms to surgery ranged from 2 to (mean 6 months. The mean follow-up was 2.11 years (0.91–Postoperatively there was a significant decrease in DASH score from 52.6 points to 13.3 points (p<0.001. Also the electrophysiological findings improved significantly: motor nerve conduction velocity increased from 36.0 m/s to 44.4 m/s (p=0.008 and the motor nerve action potential reached 5,470 mV compared to 3,665 mV preoperatively (p=0.018. A significant increase of grip strength from 59% (in comparison to the healthy hand to 80% was observed (p=0.002. Pain was indicated by means of a visual analog scale from 0 to 100. Preoperatively the median level of pain was 29 and postoperatively it was 0 (p=0.001. The decrease of the two-point-discrimination of the three ulnar finger nerves was also highly significant (p<0.001 from 11.3 mm to 5.0 mm. Significant postoperative improvement was also observed in the clinical examination concerning muscle atrophy (p=0.002, clawing (p=0.008, paresthesia (p=0.004, the sign of Froment (p=0.004, the sign of Hoffmann-Tinel (p=0.021, and clumsiness (p=0.002.Overall nearly 90% of all patients were satisfied with the result of the operation. In 96.4% of all cases, surgery improved the symptoms and in one patient (3.6% the success was noted as “poor” because the symptoms remained

  20. Results after simple decompression of the ulnar nerve in cubital tunnel syndrome.

    Science.gov (United States)

    Harder, Kristina; Lukschu, Sandra; Dunda, Sebastian E; Krapohl, Björn Dirk

    2015-01-01

    Cubital tunnel syndrome represents the second most common compression neuropathy of the upper limb. For more than four decades there has been a controversy about the best surgical treatment modality for cubital tunnel syndrome. In this study the results of 28 patients with simple ulnar nerve decompression are presented. Data analyses refers to clinical examination, personal interview, DASH-questionnaire, and electrophysiological measurements, which were assessed pre- and postoperatively. 28 patients (15 females, 13 males) were included in this study. The average age at time of surgery was 47.78 years (31.68-73.10 years). The period from onset of symptoms to surgery ranged from 2 to 24 months (mean 6 months). The mean follow-up was 2.11 years (0.91-4.16 years). Postoperatively there was a significant decrease in DASH score from 52.6 points to 13.3 points (p<0.001). Also the electrophysiological findings improved significantly: motor nerve conduction velocity increased from 36.0 m/s to 44.4 m/s (p=0.008) and the motor nerve action potential reached 5,470 mV compared to 3,665 mV preoperatively (p=0.018). A significant increase of grip strength from 59% (in comparison to the healthy hand) to 80% was observed (p=0.002). Pain was indicated by means of a visual analog scale from 0 to 100. Preoperatively the median level of pain was 29 and postoperatively it was 0 (p=0.001). The decrease of the two-point-discrimination of the three ulnar finger nerves was also highly significant (p<0.001) from 11.3 mm to 5.0 mm. Significant postoperative improvement was also observed in the clinical examination concerning muscle atrophy (p=0.002), clawing (p=0.008), paresthesia (p=0.004), the sign of Froment (p=0.004), the sign of Hoffmann-Tinel (p=0.021), and clumsiness (p=0.002). Overall nearly 90% of all patients were satisfied with the result of the operation. In 96.4% of all cases, surgery improved the symptoms and in one patient (3.6%) the success was noted as "poor" because the

  1. [Down syndrome maternal serum screening: results' comments recommended by accredited biologists].

    Science.gov (United States)

    Muller, F; Dreux, S; Czerkiewicz, I; Bernard, M; Guibourdenche, J; Lacroix, I; Moineau, M-P; Read, M-H; Sault, C; Thibaud, D; Veyrat, B; Bidat, L

    2014-11-01

    Down syndrome maternal serum screening is largely used in France. The aim of this article is to specify and to explain the different comments applied on the reports in order to optimize the management of the patient. These comments represent the consensus of the study group of the biologist accredited for Down syndrome maternal serum screening. Copyright © 2014 Elsevier Masson SAS. All rights reserved.

  2. The prevalence of metabolic syndrome among older adults in Ecuador: Results of the SABE survey.

    Science.gov (United States)

    Orces, Carlos H; Gavilanez, Enrique Lopez

    2017-12-01

    To describe the prevalence of metabolic syndrome among older adults in Ecuador. A secondary objective was to examine the relationship between metabolic syndrome and its components and insulin resistance among non-diabetic participants. The National Survey of Health, Wellbeing, and Aging survey was used to examine the prevalence of metabolic syndrome according to demographic, behavioral, and health characteristics of the participants. Logistic regression models adjusted for covariates were used to examine the independent association of metabolic syndrome and its components and insulin resistance in non-diabetic older adults. Of 2298 participants with a mean age of 71.6 (SD 8.1) years, the prevalence of metabolic syndrome was 66.0% (95% CI, 62.6%, 69.3%) in women and 47.1% (95% CI, 43.2%, 50.9) in men. However, even higher prevalence rates were seen among literate individuals, residents from urban areas of the coastal and Andes Mountains region, obese subjects, those diagnosed with diabetes, and participants with≥2 comorbidities. Overall, abdominal obesity followed by elevated blood pressure were the metabolic syndrome components more prevalent and associated with insulin resistance among older Ecuadorians. Moreover, after adjustment for covariates, older adults defined as having metabolic syndrome had a 3-fold higher odds of having insulin resistance as compared with those without. The prevalence of metabolic syndrome is high among older adults in Ecuador. The present findings may assist public health authorities to implement programs of lifestyle and behavioral modification targeting older adults at increased risk for this cardio metabolic disorder. Copyright © 2017 Diabetes India. Published by Elsevier Ltd. All rights reserved.

  3. Results of the implantation of bone-anchored hearing aids in patients with treacher-collins syndrome

    Science.gov (United States)

    Oliveira, Alexandra Kolontai de Sousa; Ferro, Lília Pereira Abreu; da Silva, Jaiede Nicacio; Okada, Daniel Mochida

    2013-01-01

    Summary Introduction: Treacher-Collins syndrome is characterized by craniofacial malformations, narrowing of the external auditory canal (EAC), and, in 30% of cases, agenesis of the canal and ossicular chain defects. The use of hearing aids (HA) is not possible in cases in which agenesis or stenosis of the EAC accompanies conductive deafness. In contrast, bone conduction implants such as the Bone Anchored Hearing Aid (BAHA®) allow direct stimulation of the cochlea and are thus superior to conventional hearing aids in cases of severe conductive hearing loss. Objective: To present 2 cases of patients with Treacher-Collins syndrome who underwent implantation of BAHA®. Cases Reports: The first patient was a 52-year-old woman diagnosed with Treacher-Collins syndrome who presented with severe bilateral mixed hearing loss and a history of unsuccessful previous use of a bone contact conduction device. The BAHA® implantation was uneventful, and the post-operative results were good. The second patient was a 14-year-old girl who was also diagnosed with Treacher-Collins Syndrome with bilateral moderate conductive hearing loss by audiometry. The use of a bone vibrator contact device did not improve her hearing; however, implantation of a BAHA® resulted in a decreased gap postoperatively. Final comments: BAHA® hearing devices provide adequate rehabilitation and consequent improvement of the quality of life in patients with Treacher-Collins syndrome. PMID:25992018

  4. Results of the implantation of bone-anchored hearing aids in patients with treacher-collins syndrome

    Directory of Open Access Journals (Sweden)

    Alexandra Kolontai de Sousa Oliveira1

    2013-04-01

    Full Text Available Introduction: Treacher-Collins syndrome is characterized by craniofacial malformations, narrowing of the external auditory canal (EAC, and, in 30% of cases, agenesis of the canal and ossicular chain defects. The use of hearing aids (HA is not possible in cases in which agenesis or stenosis of the EAC accompanies conductive deafness. In contrast, bone conduction implants such as the Bone Anchored Hearing Aid (BAHA® allow direct stimulation of the cochlea and are thus superior to conventional hearing aids in cases of severe conductive hearing loss. Objective: To present 2 cases of patients with Treacher-Collins syndrome who underwent implantation of BAHA®. Cases Reports: The first patient was a 52-year-old woman diagnosed with Treacher-Collins syndrome who presented with severe bilateral mixed hearing loss and a history of unsuccessful previous use of a bone contact conduction device. The BAHA® implantation was uneventful, and the post-operative results were good. The second patient was a 14-year-old girl who was also diagnosed with Treacher-Collins Syndrome with bilateral moderate conductive hearing loss by audiometry. The use of a bone vibrator contact device did not improve her hearing; however, implantation of a BAHA® resulted in a decreased gap postoperatively. Final comments: BAHA® hearing devices provide adequate rehabilitation and consequent improvement of the quality of life in patients with Treacher-Collins syndrome.

  5. Mavoglurant in fragile X syndrome: Results of two randomized, double-blind, placebo-controlled trials.

    Science.gov (United States)

    Berry-Kravis, Elizabeth; Des Portes, Vincent; Hagerman, Randi; Jacquemont, Sébastien; Charles, Perrine; Visootsak, Jeannie; Brinkman, Marc; Rerat, Karin; Koumaras, Barbara; Zhu, Liansheng; Barth, Gottfried Maria; Jaecklin, Thomas; Apostol, George; von Raison, Florian

    2016-01-13

    Fragile X syndrome (FXS), the most common cause of inherited intellectual disability and autistic spectrum disorder, is typically caused by transcriptional silencing of the X-linked FMR1 gene. Work in animal models has described altered synaptic plasticity, a result of the up-regulation of metabotropic glutamate receptor 5 (mGluR5)-mediated signaling, as a putative downstream effect. Post hoc analysis of a randomized, placebo-controlled, crossover phase 2 trial suggested that the selective mGluR5 antagonist mavoglurant improved behavioral symptoms in FXS patients with completely methylated FMR1 genes. We present the results of two phase 2b, multicenter, randomized, double-blind, placebo-controlled, parallel-group studies of mavoglurant in FXS, designed to confirm this result in adults (n = 175, aged 18 to 45 years) and adolescents (n = 139, aged 12 to 17 years). In both trials, participants were stratified by methylation status and randomized to receive mavoglurant (25, 50, or 100 mg twice daily) or placebo over 12 weeks. Neither of the studies achieved the primary efficacy end point of improvement on behavioral symptoms measured by the Aberrant Behavior Checklist-Community Edition using the FXS-specific algorithm (ABC-C(FX)) after 12 weeks of treatment with mavoglurant. The safety and tolerability profile of mavoglurant was as previously described, with few adverse events. Therefore, under the conditions of our study, we could not confirm the mGluR theory of FXS nor the ability of the methylation state of the FMR1 promoter to predict mavoglurant efficacy. Preclinical results suggest that future clinical trials might profitably explore initiating treatment in a younger population with longer treatment duration and longer placebo run-ins and identifying new markers to better assess behavioral and cognitive benefits. Copyright © 2016, American Association for the Advancement of Science.

  6. OIE white spot syndrome virus PCR gives false-positive results in Cherax quadricarinatus.

    Science.gov (United States)

    Claydon, Kerry; Cullen, Bradford; Owens, Leigh

    2004-12-13

    White spot syndrome virus (WSSV) is an intranuclear bacilliform virus (IBV) that is a serious, notifiable crustacean pathogen. The Office International des Epizooties (OIE) PCR protocol for WSSV uses primer sets initially developed by Lo et al. (1996). It yields a first-step PCR amplicon of 1441 bp and a nested PCR amplicon of 941 bp. An amplicon (941 bp) purported to specifically detect WSSV was obtained when using template DNA extracted from Cherax quadricarinatus in a WSSV PCR detection protocol recommended by the OIE. Sequencing and analysis of the 941 bp amplicon and an occasional 550 bp amplicon from C. quadricarinatus revealed no phylogenetic relationship with WSSV, and suggested a possible lack of sufficient primer specificity for WSSV in the OIE test. This suggestion was supported by the fact that the OIE outer primer sequence (146F1) was present in both the forward and reverse position of the 941 bp and the forward position of the 550 bp nested amplicons from C. quadricarinatus. As WSSV is a notifiable pathogen, the consequences of false-positive results are harsh in WSSV-free zones and can lead to incorrect quarantine and unnecessary destruction of animals. Therefore, urgent attention and revision is necessary for the current OIE PCR protocol for WSSV detection.

  7. The burden of congenital rubella syndrome in the Philippines: results from a retrospective assessment

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    Anna Lena Lopez

    2017-06-01

    Full Text Available Introduction: In line with the regional aim of eliminating rubella and congenital rubella syndrome (CRS, phased introduction of rubella-containing vaccines (RCV in the Philippines’ routine immunization programme began in 2010. We estimated the burden of CRS in the country before widespread nationwide programmatic RCV use. Methods: We performed a retrospective chart review in four tertiary hospitals. Children born between 1 January 2009 and 31 December 2014 and identified as possible CRS cases based on the presence of one or more potential manifestations of CRS documented in hospital or clinic charts were reviewed. Cases that met the clinical case definition of CRS were classified as either confirmed (with laboratory confirmation or probable (without laboratory confirmation. Cases that did not fulfil the criteria for either confirmed or probable CRS were excluded from the analysis. Results: We identified 18 confirmed and 201 probable cases in this review. Depending on the hospital, the estimated incidence of CRS ranged from 30 to 233 cases per 100 000 live births. The estimated national burden of CRS was 20 to 31 cases per 100 000 annually. Discussion: This is the first attempt to assess the national CRS burden using in-country hospital data in the Philippines. Prospective surveillance for CRS and further strengthening of the ongoing measles-rubella surveillance are necessary to establish accurate estimates of the burden of CRS and the impact of programmatic RCV use in the future.

  8. Long-term results of young patients with acute coronary syndrome undergoing coronary stent implantation.

    Science.gov (United States)

    Yao, Yuan; Zhang, Yao

    2016-09-01

    Long-term follow-up studies on young patients with acute coronary syndrome (ACS) undergoing coronary stent implantation are relatively scarce. This study was applied to review the long-term results of young ACS patients who had undergone coronary stenting in our hospital. One hundred and two young patients with ACS underwent coronary stent implantation in our hospital. In this study, inpatient records and long-term data of the 102 patients were comprehensively collected for analysis. Major gender of the young patients was men. Most of the patients had smoking, and each patient had at least one risk factor. During hospitalization, no patient died. At last follow-up, all patients were alive and the occurrence rate of major adverse cardio/cerebrovascular accidents was 4.9%. In summary, long-term follow-ups revealed extremely satisfactory outcomes in young ACS patients after coronary stent implantation. Smoking and traditional ACS risk factors are the leading causes of ACS in young population.

  9. Hypothyroidism is common in turner syndrome: results of a five-year follow-up.

    Science.gov (United States)

    El-Mansoury, Mostafa; Bryman, Inger; Berntorp, Kerstin; Hanson, Charles; Wilhelmsen, Lars; Landin-Wilhelmsen, Kerstin

    2005-04-01

    Turner syndrome (TS) is caused by a sex chromosome aberration. The aim was to study the prevalence and incidence of thyroid disease in adults with TS. Women with TS (n = 91; mean age, 37.7 +/- 11 yr) were compared with an age-matched female random population sample (n = 228). At baseline, 15 (16%) TS women were treated for hypothyroidism, and elevated serum TSH was found in another eight (9%). As a result, hypothyroidism was more common in women with TS (25%) than in controls (2%; P < 0.0001). Serum free T4 was lower (P = 0.02), and serum TSH was higher (P < 0.0001) in TS women than in age-matched controls. Of all TS women with hypothyroidism, 10 (43%) had an elevated thyroid peroxidase antibody titer vs. 15 (22%) of those without hypothyroidism (P < 0.05), evenly distributed between the karyotype 45,X and mosaicism. A high body mass index, but not a family history or blood lipids, was associated with hypothyroidism in TS. After the 5-yr follow-up, an additional 11 (16%) developed hypothyroidism, of whom four (36%) had elevated thyroid peroxidase. Altogether, 34 (37%) TS women had hypothyroidism after the 5-yr follow-up. Autoimmune hypothyroidism was common, with an annual incidence of 3.2% in TS. Thyroid function should be checked regularly in TS.

  10. Chediak-Higashi syndrome with early developmental delay resulting from paternal heterodisomy of chromosome 1.

    Science.gov (United States)

    Manoli, Irini; Golas, Gretchen; Westbroek, Wendy; Vilboux, Thierry; Markello, Thomas C; Introne, Wendy; Maynard, Dawn; Pederson, Ben; Tsilou, Ekaterini; Jordan, Michael B; Hart, P Suzanne; White, James G; Gahl, William A; Huizing, Marjan

    2010-06-01

    Chediak-Higashi syndrome (CHS) is a rare autosomal recessive disease characterized by variable oculocutaneous albinism, immunodeficiency, mild bleeding diathesis, and an accelerated lymphoproliferative state. Abnormal lysosome-related organelle membrane function leads to the accumulation of large intracellular vesicles in several cell types, including granulocytes, melanocytes, and platelets. This report describes a severe case of CHS resulting from paternal heterodisomy of chromosome 1, causing homozygosity for the most distal nonsense mutation (p.E3668X, exon 50) reported to date in the LYST/CHS1 gene. The mutation is located in the WD40 region of the CHS1 protein. The patient's fibroblasts expressed no detectable CHS1. Besides manifesting the classical CHS findings, the patient exhibited hypotonia and global developmental delays, raising concerns about other effects of heterodisomy. An interstitial 747 kb duplication on 6q14.2-6q14.3 was identified in the propositus and paternal samples by comparative genomic hybridization. SNP genotyping revealed no additional whole chromosome or segmental isodisomic regions or other dosage variations near the crossover breakpoints on chromosome 1. Unmasking of a separate autosomal recessive cause of developmental delay, or an additive effect of the paternal heterodisomy, could underlie the severity of the phenotype in this patient. Published 2010 Wiley-Liss, Inc.

  11. Early detection of Angelman syndrome resulting from de novo paternal isodisomic 15q UPD and review of comparable cases.

    Science.gov (United States)

    Horváth, Emese; Horváth, Zsuzsanna; Isaszegi, Dóra; Gergev, Gyurgyinka; Nagy, Nikoletta; Szabó, János; Sztriha, László; Széll, Márta; Endreffy, Emőke

    2013-09-08

    Angelman syndrome is a rare neurogenetic disorder that results in intellectual and developmental disturbances, seizures, jerky movements and frequent smiling. Angelman syndrome is caused by two genetic disturbances: either genes on the maternally inherited chromosome 15 are deleted or inactivated or two paternal copies of the corresponding genes are inherited (paternal uniparental disomy). A 16-month-old child was referred with minor facial anomalies, neurodevelopmental delay and speech impairment. The clinical symptoms suggested angelman syndrome. The aim of our study was to elucidate the genetic background of this case. This study reports the earliest diagnosed angelman syndrome in a 16-month-old Hungarian child. Cytogenetic results suggested a de novo Robertsonian-like translocation involving both q arms of chromosome 15: 45,XY,der(15;15)(q10;q10). Molecular genetic studies with polymorphic short tandem repeat markers of the fibrillin-1 gene, located in the 15q21.1, revealed that both arms of the translocated chromosome were derived from a single paternal chromosome 15 (isodisomy) and led to the diagnosis of angelman syndrome caused by paternal uniparental disomy. AS resulting from paternal uniparental disomy caused by de novo balanced translocation t(15q;15q) of a single paternal chromosome has been reported by other groups. This paper reviews 19 previously published comparable cases of the literature. Our paper contributes to the deeper understanding of the phenotype-genotype correlation in angelman syndrome for non-deletion subclasses and suggests that patients with uniparental disomy have milder symptoms and higher BMI than the ones with other underlying genetic abnormalities.

  12. Ethnic differences in the prevalence of metabolic syndrome: results from a multi-ethnic population-based survey in Malaysia.

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    Sanjay Rampal

    Full Text Available INTRODUCTION: The prevalence of metabolic syndrome is increasing disproportionately among the different ethnicities in Asia compared to the rest of the world. This study aims to determine the differences in the prevalence of metabolic syndrome across ethnicities in Malaysia, a multi-ethnic country. METHODS: In 2004, we conducted a national cross-sectional population-based study using a stratified two-stage cluster sampling design (N = 17,211. Metabolic syndrome was defined according to the International Diabetes Federation/National Heart, Lung and Blood Institute/American Heart Association (IDF/NHLBI/AHA-2009 criteria. Multivariate models were used to study the independent association between ethnicity and the prevalence of the metabolic syndrome. RESULTS: The overall mean age was 36.9 years, and 50.0% participants were female. The ethnic distribution was 57.0% Malay, 28.5% Chinese, 8.9% Indian and 5.0% Indigenous Sarawakians. The overall prevalence of the metabolic syndrome was 27.5%, with a prevalence of central obesity, raised triglycerides, low high density lipoprotein cholesterol, raised blood pressure and raised fasting glucose of 36.9%, 29.3%, 37.2%, 38.0% and 29.1%, respectively. Among those <40 years, the adjusted prevalence ratios for metabolic syndrome for ethnic Chinese, Indians, and Indigenous Sarawakians compared to ethnic Malay were 0.81 (95% CI 0.67 to 0.96, 1.42 (95% CI 1.19 to 1.69 and 1.37 (95% CI 1.08 to 1.73, respectively. Among those aged ≥40 years, the corresponding prevalence ratios were 0.86 (95% CI 0.79 to 0.92, 1.25 (95% CI 1.15 to 1.36, and 0.94 (95% CI 0.80, 1.11. The P-value for the interaction of ethnicity by age was 0.001. CONCLUSIONS: The overall prevalence of metabolic syndrome in Malaysia was high, with marked differences across ethnicities. Ethnic Chinese had the lowest prevalence of metabolic syndrome, while ethnic Indians had the highest. Indigenous Sarawakians showed a marked increase in metabolic

  13. [Tarsal tunnel syndrome. Review of the topic as a result of one case].

    Science.gov (United States)

    López-Gavito, E; Parra-Téllez, P; Cornejo-Olvera, R; Vázquez-Escamilla, J

    2014-01-01

    The first description of tarsal tunnel is attributed to Richter in 1897, in 1932 Pollock and Davis described the syndrome for the first time, in 1960 Kopell and Thompson described the clinical features of tarsal tunnel syndrome; and in 1962 Charles Keck described tarsal tunnel syndrome in a detailed manner with clinical cases. We present the case of a 61 year old female patient who presented symptoms in 2010, she had intermittent talalgia that increased gradually, six months later pain is constant and limiting gait, EVA is 6/10, she is diagnosed with plantar fasciitis and is referred to physiotherapy with no improvement after two months of treatment. The plantar fascia ultrasound reports thickening with micro tears in the heel bone attachment, we infiltrated the plantar fascia with platelet rich plasma with no improvement, two months later she has shock wave sessions with no changes observed. We reassess the case and make the diagnosis of tarsal tunnel syndrome clinically and with electromyography and in 2011 we infiltrate a steroid with local anesthesia with temporary improvement. In 2012, we found an EVA of 7/10 and an AOFAS of 54 points, we perform surgery and the intraoperative finding is a varicose vein that decreased the caliber of the tarsal tunnel compressing adjacent structures. The clinical case is presented and we reviewed tarsal tunnel syndrome in the literature.

  14. Combined colonoscopy and endometrial biopsy cancer screening results in women with Lynch syndrome.

    Science.gov (United States)

    Nebgen, Denise R; Lu, Karen H; Rimes, Sue; Keeler, Elizabeth; Broaddus, Russell; Munsell, Mark F; Lynch, Patrick M

    2014-10-01

    Endometrial biopsy (EMBx) and colonoscopy performed under the same sedation is termed combined screening and has been shown to be feasible and to provide a less painful and more satisfactory experience for women with Lynch syndrome (LS). However, clinical results of these screening efforts have not been reported. The purpose of this study was to evaluate the long-term clinical outcomes and patient compliance with serial screenings over the last 10.5 years. We retrospectively analyzed the data for 55 women with LS who underwent combined screening every 1-2 years between 2002 and 2013. Colonoscopy and endometrial biopsy were performed by a gastroenterologist and a gynecologist, with the patient under conscious sedation. Out of 111 screening visits in these 55 patients, endometrial biopsies detected one simple hyperplasia, three complex hyperplasia, and one endometrioid adenocarcinoma (FIGO Stage 1A). Seventy-one colorectal polyps were removed in 29 patients, of which 29 were tubular adenomas. EMBx in our study detected endometrial cancer in 0.9% (1/111) of surveillance visits, and premalignant hyperplasia in 3.6% (4/111) of screening visits. No interval endometrial or colorectal cancers were detected. Combined screening under sedation is feasible and less painful than EMBx alone. Our endometrial pathology detection rates were comparable to yearly screening studies. Our results indicate that screening of asymptomatic LS women with EMBx every 1-2 years, rather than annually, is effective in the early detection of (pre)cancerous lesions, leading to their prompt definitive management, and potential reduction in endometrial cancer. Copyright © 2014 Elsevier Inc. All rights reserved.

  15. Blau Syndrome-Associated Uveitis: Preliminary Results From an International Prospective Interventional Case Series.

    Science.gov (United States)

    Sarens, Inge L; Casteels, Ingele; Anton, Jordi; Bader-Meunier, Brigitte; Brissaud, Philippe; Chédeville, Gaelle; Cimaz, Rolando; Dick, Andrew D; Espada, Graciella; Fernandez-Martin, Jorge; Guly, Catherine M; Hachulla, Eric; Harjacek, Miroslav; Khubchandani, Raju; Mackensen, Friederike; Merino, Rosa; Modesto, Consuelo; Naranjo, Antonio; Oliveira-Knupp, Sheila; Özen, Seza; Pajot, Christine; Ramanan, Athimalaipet V; Russo, Ricardo; Susic, Gordana; Thatayatikom, Akaluck; Thomée, Caroline; Vastert, Sebastiaan; Bertin, John; Arostegui, Juan I; Rose, Carlos D; Wouters, Carine H

    2017-09-06

    Provide baseline and preliminary follow-up results in a 5-year longitudinal study of Blau syndrome. Multicenter, prospective interventional case series. Baseline data from 50 patients from 25 centers worldwide, and follow-up data for patients followed 1, 2, or 3 years at the end of study enrollment. Ophthalmic data were collected at baseline and yearly visits by means of a standardized collection form. Median age at onset of eye disease was 60 months and duration of eye disease at baseline 145 months. At baseline 38 patients (78%) had uveitis, which was bilateral in 37 (97%). Eight patients (21%) had moderate to severe visual impairment. Panuveitis was found in 38 eyes (51%), with characteristic multifocal choroidal infiltrates in 29 eyes (39%). Optic disc pallor in 9 eyes (12%) and peripapillary nodules in 9 eyes (12%) were the commonest signs of optic nerve involvement. Active anterior chamber inflammation was noted in 30 eyes (40%) at baseline and in 16 (34%), 17 (57%), and 11 (61%) eyes at 1, 2, and 3 years, respectively. Panuveitis was associated with longer disease duration. At baseline, 56 eyes (75%) were on topical corticosteroids. Twenty-six patients (68%) received a combination of systemic corticosteroids and immunomodulatory therapy. Blau uveitis is characterized by progressive panuveitis with multifocal choroiditis, resulting in severe ocular morbidity despite continuous systemic and local immunomodulatory therapy. The frequency and severity of Blau uveitis highlight the need for close ophthalmologic surveillance as well as a search for more effective therapies. Copyright © 2017 Elsevier Inc. All rights reserved.

  16. Implications of post-gadolinium MRI results in 13 cases with posterior reversible encephalopathy syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Ugurel, Mehmet Sahin [Department of Radiology, Gulhane Military Medical Academy and Medical Faculty, Ankara 06018 (Turkey)]. E-mail: sugurel@gata.edu.tr; Hayakawa, Minako [Department of Radiology, University of Iowa-College of Medicine, Iowa City, IA 52242 (United States)

    2005-03-01

    Background: There is a relative lack of definitive information about the contrast-enhancement characteristics of lesions in posterior reversible encephalopathy syndrome (PRES). Objective: Evaluation of contrast-enhanced MRI findings in PRES with a special emphasis on pathophysiology of post-gadolinium behavior of these lesions. Materials and methods: Contrast-enhanced 1.5 T MRI findings and relevant clinical data of the patients were retrospectively reviewed on 13 cases (six males, seven females; age range: 22-78; mean age 47). Although fluid attenuated inversion recovery (FLAIR) and diffusion-weighted MR images were considered for identification of the entity, primarily post-contrast T1-weighted MR images were searched for traces of enhancement in the lesions. Results: No definitely enhancing lesion was identified in the MR images obtained in 6-48 h after onset of symptoms (mostly headaches, seizures and cortical visual field deficits) in this series. Severity of disease indicated by small hemorrhages, confluence of lesions or progression to cytotoxic edema did not seem to alter this result. Typical lesion characteristics were consistent with vasogenic edema on FLAIR and diffusion MR images. Acute elevation of blood pressure on chronic hypertensive background was responsible in four, eclampsia in three, uremia with blood pressure fluctuations in three, and cyclosporine-toxicity in three cases. Conclusion: Although occasional enhancing brain lesions have been reported in the literature on PRES, contrast-enhancement of lesions may be a factor of scan timing and underlying etiology. Prospective studies with larger series on PRES are required for better evaluation of contrast-enhancement in MRI with respect to scan timing, which in turn may help understand its pathophysiology better.

  17. Results of Genetic Testing in 855 Consecutive Unrelated Patients Referred for Long QT Syndrome in a Clinical Laboratory

    NARCIS (Netherlands)

    Lieve, Krystien V.; Williams, Leah; Daly, Amy; Richard, Gabriele; Bale, Sherri; Macaya, Daniela; Chung, Wendy K.

    2013-01-01

    Aim: Our aim was to examine the diagnostic yield of genetic testing in 855 consecutive unrelated cases referred for Long QT syndrome (LQTS). Results: Eight hundred fifty five consecutive patients with a mean age at testing of 27.5±18.6 years, were referred for LQTS genetic testing and had

  18. Rhabdomyolysis resulting in concurrent Horner's syndrome and brachial plexopathy: a case report

    Energy Technology Data Exchange (ETDEWEB)

    Lee, Susan C.; Geannette, Christian; Sneag, Darryl B. [Hospital for Special Surgery, Department of Radiology and Imaging, New York, NY (United States); Wolfe, Scott W. [Hospital for Special Surgery, Hand and Upper Extremity, Department of Orthopedics, New York, NY (United States); Feinberg, Joseph H. [Hospital for Special Surgery, Physical Medicine and Rehabilitation, New York, NY (United States)

    2017-08-15

    This case report describes a 29-year-old male who presented with immediate onset of Horner's syndrome and ipsilateral brachial plexopathy after sleeping with his arm dangling outside a car window for 8 h. Outside workup and imaging revealed rhabdomyolysis of the left neck musculature. Subsequent electrodiagnostic testing and high-resolution brachial plexus magnetic resonance imaging at the authors' institution attributed the Horner's syndrome and concurrent brachial plexopathy to rhabdomyolysis of the longus colli and scalene musculature, which had compressed - and consequently scar tethered - the cervical sympathetic trunk and brachial plexus. This case of co-existent Horner's syndrome and brachial plexopathy demonstrates the role of high-resolution brachial plexus MRI in diagnosing plexopathy and the importance of being familiar with plexus and paravertebral muscle anatomy. (orig.)

  19. Long-term results in obstructive sleep apnea syndrome (OSAS after laser-assisted uvulopalatoplasty (LAUP.

    Directory of Open Access Journals (Sweden)

    Önder Göktas

    Full Text Available Obstructive sleep apnea syndrome (OSAS is a serious disease. The etiology of and optimum therapy options for this disorder have been much discussed and have been the subject of many publications. One much discussed therapy option is laser-assisted uvulopalatoplasty (LAUP. Despite conflicting opinions and guidelines which recommend that it should not be used, it remains in use. Patients who had previously undergone this procedure were invited for follow-up appointments, at which they were asked to complete a questionnaire, underwent an ENT examination and underwent sleep laboratory analysis using a portable sleep lab device. The average time since LAUP treatment was 11 years. The cohort comprised 25 patients. The average preoperative apnea-hypopnea-index (AHI score was 25.25/h; the average postoperative AHI score 23.62/h. Closer examination of our data enabled us to identify 10 responders (40% and 15 non-responders (60%. 12% (3/25 of non-responders experienced either no reduction in their AHI score or an increase compared to their preoperative AHI score of less than 5/h. In the remaining 48% (12/25, AHI increased by more than 5/h compared to the preoperative figure. Our questionnaire showed that 40% (10/25 of patients suffered from dry mouth and 20% (5/25 from foreign body sensation. The data led us to conclude that laser-assisted uvulopalatoplasty can indeed result in a reduction in AHI score comparable to other mucosal resection methods. Also in common with these methods, the efficacy of the therapy reduces with time and the procedure carries a high risk of bringing about an increase in the patient's AHI score.

  20. Long-term results of tracheostomy for severe obstructive sleep apnea syndrome.

    Science.gov (United States)

    Haapaniemi, J J; Laurikainen, E A; Halme, P; Antila, J

    2001-01-01

    Severe obstructive sleep apnea (OSAS) is most often accompanied by metabolic syndrome, obesity, diabetes and coronary disease. In its most severe form, it is a life-threatening condition, requiring active and immediate help. Nasal continuous positive airway pressure (CPAP) is the most efficient nonsurgical treatment for patients with OSAS. However, for anatomical, disease-related and subjective reasons, many patients cannot accept this treatment. A permanent tracheostomy may be one alternative in such patients who, in addition, often suffer from extreme obesity and severe heart disease. In this paper, we describe the long-term follow-up results of 7 patients suffering from OSAS and treated with permanent tracheostomy. All the patients (5 men, 2 women) were diagnosed using the static charge sensitive bed method and night-time oximetry for sleep analysis. The mean body mass index (BMI) of the patients ranged from 34 to 60 and the age from 41 to 64 years. All the patients had severe OSAS and long periods of low oxygen saturation (SaO2) levels. Six patients had a CPAP trial before tracheostomy. Only 2 patients tolerated the trial but, despite the continuous use of CPAP, they were nonresponders. Permanent tracheostomy was done according to normal routine in each patient. After primary healing of 2 days, they used silver cannulae, which also allowed them to speak. The patients were evaluated every year after the tracheostomy. After some practical difficulties including proper maintenance of the cannula, all the patients quickly learned the correct management. In postoperative sleep studies, nadir SaO2 levels had improved significantly, obstructive apneas had disappeared and the subjective quality of life had improved. No marked changes in BMI were found.

  1. [Methods in neonatal abstinence syndrome (NAS): results of a nationwide survey in Austria].

    Science.gov (United States)

    Bauchinger, S; Sapetschnig, I; Danda, M; Sommer, C; Resch, B; Urlesberger, B; Raith, W

    2015-08-01

    Neonatal abstinence syndrome (NAS) occurs in neonates whose mothers have taken addictive drugs or were under substitution therapy during pregnancy. Incidence numbers of NAS are on the rise globally, even in Austria NAS is not rare anymore. The aim of our survey was to reveal the status quo of dealing with NAS in Austria. A questionnaire was sent to 20 neonatology departments all over Austria, items included questions on scoring, therapy, breast-feeding and follow-up procedures. The response rate was 95%, of which 94.7% had written guidelines concerning NAS. The median number of children being treated per year for NAS was 4. Finnegan scoring system is used in 100% of the responding departments. Morphine is being used most often, in opiate abuse (100%) as well as in multiple substance abuse (44.4%). The most frequent forms of morphine preparation are morphine and diluted tincture of opium. Frequency as well as dosage of medication vary broadly. 61.1% of the departments supported breast-feeding, regulations concerned participation in a substitution programme and general contraindications (HIV, HCV, HBV). Our results revealed that there is a big west-east gradient in patients being treated per year. NAS is not a rare entity anymore in Austria (up to 50 cases per year in Vienna). Our survey showed that most neonatology departments in Austria treat their patients following written guidelines. Although all of them base these guidelines on international recommendations there is no national consensus. © Georg Thieme Verlag KG Stuttgart · New York.

  2. Hypoadiponectinemia and the presence of metabolic syndrome in patients with chronic kidney disease: results from the KNOW-CKD study

    Directory of Open Access Journals (Sweden)

    Chang-Yun Yoon

    2016-11-01

    Full Text Available Abstract Background In patients with chronic kidney disease, metabolic syndrome has been demonstrated to be the culprit behind diverse complications. Adiponectin is known to have anti-atherogenic and cardio-protective effects. Meanwhile, the relationship between adiponectin and metabolic syndrome in patients with chronic kidney disease has not been clarified. The aim of this study was to elucidate the relationship between adiponectin level and metabolic syndrome in patients with chronic kidney disease. Methods The KoreaN Cohort Study for Outcome in Patients with Chronic Kidney Disease is a cohort study that enrolled subjects with chronic kidney disease throughout South Korea. From February 2011 to July 2014, data were collected from 1332 patients with chronic kidney disease. Results The mean age of the patients was 53.5 years and 803 patients (60.7% were men. The median adiponectin level was 10.7 μg/mL and 585 (44.3% patients had metabolic syndrome. In multiple linear regression analysis, log adiponectin was positively associated with high-density lipoprotein cholesterol levels (β = 0.006, whereas it was negatively associated with serum albumin (β = −0.284, triglyceride (log β = −0.288, high sensitivity C-reactive protein (log β = −0.058 levels and estimated glomerular filtration rate (β = −0.005. Multiple logistic regression analysis indicated that low adiponectin level was independently associated with a higher risk of metabolic syndrome (per 1 μg/mL increase; odds ratio = 0.953, 95% confidence interval = 0.898–0.970, P < 0.001 after adjustment for multiple confounding factors. Conclusions Hypoadiponectinemia is independently associated with the presence of metabolic syndrome in patients with chronic kidney disease.

  3. Case report : Twin-to-twin transfusion syndrome resulting from placental collateral artery development

    NARCIS (Netherlands)

    van den Wijngaard, J. P. H. M.; van Gemert, M. J. C.; Lopriore, E.; Vandenbussche, F. P. H. A.; Nikkels, P. G. J.; VanBavel, E.

    Background: The twin-to-twin transfusion syndrome (TTTS) is a severe complication of monochorionic twin pregnancies, caused by a net inter-twin transfusion of blood from one fetus (the donor) towards the other fetus (the recipient) through placental anastomoses. TTTS is driven by

  4. Clinico-Pathological Correlations of the Frontal Lobe Syndrome : Results of a Large Brain Bank Study

    NARCIS (Netherlands)

    Krudop, Welmoed A; Bosman, Sjanne; Geurts, Jeroen J G; Sikkes, Sietske A M; Verwey, Nicolaas A; Stek, Max L; Scheltens, Philip; Rozemuller, Annemieke J M; Pijnenburg, Yolande A L

    2015-01-01

    AIMS: A clinical frontal lobe syndrome (FLS) is generally attributed to functional or structural disturbances within frontal-subcortical circuits. We studied the distribution of pathological brain changes in FLS. Additionally, the prevalence of FLS among various disorders was studied. METHODS: We

  5. Surgery results in exaggerated and persistent cognitive decline in a rat model of the Metabolic Syndrome.

    Science.gov (United States)

    Feng, Xiaomei; Degos, Vincent; Koch, Lauren G; Britton, Steven L; Zhu, Yinggang; Vacas, Susana; Terrando, Niccolò; Nelson, Jeffrey; Su, Xiao; Maze, Mervyn

    2013-05-01

    Postoperative cognitive decline can be reproduced in animal models. In a well-validated rat model of the Metabolic Syndrome, we sought to investigate whether surgery induced a more severe and persistent form of cognitive decline similar to that noted in preliminary clinical studies. In rats that had been selectively bred for low and high exercise endurance, the low capacity runners (LCR) exhibited features of Metabolic Syndrome (obesity, dyslipidemia, insulin resistance, and hypertension). Tibial fracture surgery was performed under isoflurane anesthesia in LCR and high capacity runner (HCR) rats and cognitive function was assessed postoperatively in a trace-fear conditioning paradigm and Morris Water Maze; non-operated rats were exposed to anesthesia and analgesia (sham). Group sizes were n = 6. On postoperative D7, LCR rats had shorter freezing times than postoperative HCR rats. Five months postoperatively, LCR rats had a flatter learning trajectory and took longer to locate the submerged platform than postoperative HCR rats; dwell-time in the target quadrant in a probe trial was shorter in the postoperative LCR compared to HCR rats. LCR and HCR sham rats did not differ in any test. Postoperatively, LCR rats diverged from HCR rats exhibiting a greater decline in memory, acutely, with persistent learning and memory decline, remotely; this could not be attributed to changes in locomotor or swimming performance. This Metabolic Syndrome animal model of surgery-induced cognitive decline corroborates, with high fidelity, preliminary findings of postoperative cognitive dysfunction in Metabolic Syndrome patients.

  6. Loss of PKCδ results in characteristics of Sjögren’s syndrome including salivary gland dysfunction

    Science.gov (United States)

    Banninger, Gregg P.; Cha, Seunghee; Said, M Sherif; Pauley, Kaleb M.; Carter, Cristan J.; Ornate, Mairelys; Pauley, Brad A.; Anderson, Steven M.; Reyland, Mary E.

    2012-01-01

    Chronic infiltration of lymphocytes into the salivary and lacrimal glands of Sjögren’s Syndrome patients leads to destruction of acinar cells and loss of exocrine function. Protein kinase C-delta (PKCδ) is known to play a critical role in B cell maintenance. Mice in which the PKCδ gene has been disrupted have a loss of B cell tolerance, multiple organ lymphocytic infiltration, and altered apoptosis. To determine if PKCδ contributes to the pathogenesis of Sjögren’s Syndrome, we quantified changes in indicators of Sjögren’s Syndrome in PKCδ−/− mice as a function of age. Salivary gland histology, function, the presence of autoantibodies, and cytokine expression were examined. Materials and Methods: Submandibular glands were examined for the presence of lymphocytic infiltrates, and the type of infiltrating lymphocyte and cytokine deposition was evaluated by immunohistochemistry. Serum samples were tested by autoantibody screening, which was graded by its staining pattern and intensity. Salivary gland function was determined by saliva collection at various ages. Results: PKCδ−/− mice have reduced salivary gland function, B220+ B cell infiltration, anti-nuclear antibody production, and elevated IFN-γ in the salivary glands as compared to PKCδ+/+ littermates. Conclusions: PKCδ−/− mice have exocrine gland tissue damage indicative of a Sjögren’s Syndrome-like phenotype. PMID:21702866

  7. Complete Removal of the Epitrochleoanconeus Muscles in Patients with Cubital Tunnel Syndrome: Results From a Small Prospective Case Series.

    Science.gov (United States)

    de Ruiter, Godard C W; van Duinen, Sjoerd G

    2017-08-01

    Sometimes during surgery for cubital syndrome an anomalous muscle called the epitrochleoanconeus is encountered. Different surgical strategies on how to decompress the ulnar nerve in the presence of this muscle have been proposed, including transection of the muscle, resection, or subcutaneous transposition of the ulnar nerve. Because of the low incidence, there is no consensus on what type of surgical treatment can best be performed. In the present study, we prospectively followed a small series of patients, in which the muscle was resected. Five patients who presented to our clinic with cubital tunnel syndrome in the presence of an epitrochleoanconeus muscle were followed prospectively. Two patients had bilateral epitrochleoanconeus muscles, 1 patient had recurrent symptoms after previous myotomy. Clinical outcome after resection of the muscle was graded using the Likert scale. In addition, histopathologic analysis was performed on the resected muscles, including ATPase histochemistry. Six of 7 cases had complete relief of symptoms (Likert 1) 6 weeks after excision of the epitrochleoanconeus muscle, including the case with recurrent symptoms after previous myotomy. Histopathologic analysis of the muscles showed grouped muscle fiber atrophy and type grouping in all cases, both signs of denervation that confirm the compressive pathophysiology of cubital tunnel syndrome in these patients. The results of this small prospective case series show that excision of the epitrochleoanconeus muscle in patients with cubital tunnel syndrome frequently leads to complete recovery. Further support for this surgical strategy was found from histopathologic analysis of the resected muscles. Copyright © 2017 Elsevier Inc. All rights reserved.

  8. Egg Consumption and Risk of Metabolic Syndrome in Korean Adults: Results from the Health Examinees Study.

    Science.gov (United States)

    Shin, Sangah; Lee, Hwi-Won; Kim, Claire E; Lim, Jiyeon; Lee, Jong-Koo; Lee, Sang-Ah; Kang, Daehee

    2017-07-02

    Metabolic syndrome (MetS) is defined as a cluster of metabolic alterations such as abdominal obesity, dyslipidemias, elevated fasting glucose, and hypertension. Studies on the association between egg consumption and MetS are limited and inconsistent. A cross-sectional analysis was conducted to examine the association of egg consumption with MetS among Korean adults aged 40-69 years. A total of 130,420 subjects (43,682 men and 86,738 women) from the Health Examinees Study were selected for the final analysis. Egg consumption was estimated using a validated 106-item food frequency questionnaire. MetS was defined using the National Cholesterol Education Program, Adult Treatment Panel III. Logistic regression analyses were performed to identify the association of egg consumption with MetS via odds ratios (ORs) and 95% confidence intervals (CIs) after adjusting for potential variables. Among 130,420 subjects, 34,039 (26.1%) people had MetS. Consumption of more than 7 eggs/week was associated with a lower odds of MetS risk compared to those who consumed less than one egg/week in women (OR: 0.77, 95%CI: 0.70-0.84, p trend consumption was inversely associated with the MetS components: elevated waist circumference (OR: 0.80, 0.75-0.86), elevated triglyceride (OR: 0.78, 0.72-0.85), reduced high-density lipoprotein cholesterol (HDL-C) (OR: 0.82, 0.77-0.88), elevated blood pressure (OR: 0.86, 0.80-0.92), and elevated fasting glucose (OR: 0.94, 0.83-0.99) in women; reduced HDL-C (OR: 0.89, 0.80-1.00) in men. Our results suggest that higher egg consumption may be associated with a reduction in the odds for MetS and all five metabolic components in women, and the risk of reduced HDL-C in men.

  9. Methionyl human growth hormone and oxandrolone in Turner syndrome: preliminary results of a prospective randomized trial.

    Science.gov (United States)

    Rosenfeld, R G; Hintz, R L; Johanson, A J; Brasel, J A; Burstein, S; Chernausek, S D; Clabots, T; Frane, J; Gotlin, R W; Kuntze, J

    1986-12-01

    Seventy girls with Turner syndrome, 4 to 12 years of age, were randomly assigned to receive either no treatment (control) or methionyl human growth hormone (0.125 mg/kg three times per week), oxandrolone (0.125 mg/kg/day), or combination hGH plus oxandrolone therapy. Baseline growth rates averaged 4.3 cm/yr, and all were within 2 SD of mean growth velocity for age in girls with Turner syndrome. Sixty-seven girls remained in the study for a minimum of 1 year. Growth rates and growth velocity (in standard deviations for age in girls with Turner syndrome) were control 3.8 cm/yr (-0.1 SD), hGH 6.6 cm/yr (+2.3 SD), oxandrolone 7.9 cm/yr (+3.7 SD), and combination therapy 9.8 cm/yr (+5.4 SD). Mean bone ages advanced 1.0 years (hGH), 1.3 years (oxandrolone), and 1.6 years (combination). However, median increments in height age/bone age (delta HA/delta BA) ratios ranged from 1.0 to 1.1 for treatment groups, compared with 0.8 for the controls. Predicted adult height by the method of Bayley-Pinneau increased 2.5 cm for hGH or oxandrolone alone, and 3.2 cm for combination treatment. These data indicate that both hGH and oxandrolone can significantly stimulate short-term skeletal growth in patients with Turner syndrome, and potentially increase final adult height.

  10. [Results of the treatment of carpal tunnel syndrome--a review].

    Science.gov (United States)

    Zyluk, Andrzej; Strychar, Jarosław

    2005-01-01

    Based on review of the literature, a comprehensive information on the methods and outcomes of the treatment of carpal tunnel syndrome is provided. Conservative treatment of the syndrome includes immobilization of the wrist, physiotherapy, drug therapy and steroid injections into carpal tunnel. Effectiveness of the conservative measures is acceptable in short perspective, but not in long term follow-up. The most common treatment in the carpal tunnel syndrome is surgery, which consists in division of the transverse carpal ligament. The advantages and drawbacks of various operative techniques are presented including classical open, endoscopic and limited open techniques with general conclusion that only operative carpal tunnel release warrants permanent recovery. A chronology and sequence of the withdrawal of symptoms of the disease was described: nocturnal pain disappears usually within first week after decompression, sensation improves within 3 months, and grip strength, after immediate post-operative deterioration, improves gradually even up to 2 years after operation. It was outlined that some patients may complain of pain and discomfort relating to the post-operative scar in the wrist, and that may be secondary morbidity, complications and recurrence after surgery. It was concluded that method of operative technique has not significant effect on long-term outcome, but in short perspective mini-invasive measures are favoured by the patients.

  11. Superior mesenteric artery syndrome resulting from acute massive gastric dilatation caused by Helicobacter pylori-induced acute antral gastritis.

    Science.gov (United States)

    Hashimoto, Hiroyuki; Seno, Akiko; Ishizaki, Akiko; Terasaki, Shuichi; Kimoto, Tatsuya

    2008-12-01

    A previously well, slender 14-year-old boy developed right epigastric pain with vomiting. His vomiting gradually changed to bile-stained fluid for 8 h. He was diagnosed with superior mesenteric artery syndrome with acute massive gastric dilatation by contrast-enhanced computed tomography, which also showed markedly thickened prepyloric gastric wall that may have caused gastric outlet stenosis. Acute gastric mucosal lesions of the antrum were confirmed by endoscopic and histological studies. Endoscopic biopsy specimens using rapid urease test and histopathology detected Helicobacter pylori. Serum anti-H. pylori antibody was negative. He did well after conservative treatment. We conclude that an acute form of superior mesenteric artery syndrome resulted from compression of the artery by acute massive gastric dilatation associated with transient gastric outlet stenosis caused by acute antral gastritis, which resulted from the initial H. pylori infection.

  12. Mood and Anxiety Disorders in Chronic Fatigue Syndrome, Fibromyalgia, and Irritable Bowel Syndrome : Results From the LifeLines Cohort Study

    NARCIS (Netherlands)

    Janssens, Karin A. M.; Zijlema, Wilma L.; Joustra, Monica L.; Rosmalen, Judith G. M.

    Objective: Functional somatic syndromes (FSSs) have often been linked to psychopathology. The aim of the current study was to compare prevalence rates of psychiatric disorders among individuals with chronic fatigue syndrome (CFS), fibromyalgia (FM), and irritable bowel syndrome (IBS). Methods: This

  13. Síndrome de Ciancia: Resultados quirúrgicos Ciancia's syndrome: Surgical results

    Directory of Open Access Journals (Sweden)

    Teresita de J Méndez Sánchez

    2004-06-01

    Full Text Available El síndrome de Ciancia, representa aproximadamente el 10 % de las esotropías congénitas, se caracteriza por ángulo de desviación generalmente grande, limitación de la abducción y nistagmos en resorte en el intento de la misma. Se realizó un estudio descriptivo prospectivo de 21 pacientes, que asistieron a la Consulta de Oftalmología Pediátrica del Hospital Oftalmológico Docente "Pando Ferrer" desde enero del 2000 a enero del 2002 con los objetivos describir la edad de aparición, de diagnóstico y de cirugía de los casos estudiados, identificar el defecto refractivo predominante, describir los signos y enfermedades asociadas, determinar los resultados quirúrgicos y la correlación existente entre la edad del alineamiento y los resultados sensoriales obtenidos. En la muestra estudiada la edad de aparición de la desviación ocular fue en el 62 % de los pacientes entre el nacimiento y los 2 meses de edad, en el primer año de vida se diagnosticaron el 66,7 % de los niños los cuales fueron operados entre los 13 y 17 meses de edad. Quedaron alineados quirúrgicamente el 81,0 % de los pacientes. La asociación más frecuente fue con hiperfunción de oblicuos inferiores. Los 14 pacientes alineados entre los 13 y 17 meses de edad alcanzaron fusión y estereopsiaCiancia's syndrome accounts approximately for 10 % of the congenital esotropias. It is characterized by a generally open deviation angle, limitation of abduction and jerk nystagmus. A descriptive prospective study of 21 patients that visited the office of pediatric ophthalmology at "Pando Ferrer" Ophthalmological Hospital from January 2000 to January 2002 was conducted aimed at describing the age of appearance, diagnosis and surgery of the studied cases, and at identifying the predominant refractive defect and describing the signs and associated diseases, determining the surgical results and the correlation existing between the age of alignment and the sensorial results obtained

  14. Angelman Syndrome due to familial translocation: unexpected additional results characterized by Microarray-based Comparative Genomic Hybridization.

    Science.gov (United States)

    Yokoyama-Rebollar, Emiy; Ruiz-Herrera, Adriana; Lieberman-Hernández, Esther; Del Castillo-Ruiz, Victoria; Sánchez-Sandoval, Silvia; Ávila-Flores, Silvia M; Castrillo, José Luis

    2015-01-01

    The 15q11q13 region is subject to imprinting and is involved in various structural rearrangements. Less than 1% of Angelman Syndrome patients are due to translocations involving 15q11q13. These translocations can arise de novo or result from the segregation of chromosomes involved in a familial balanced translocation. A 5-year-old Mexican girl presented with developmental delay, minor dysmorphic features and history of exotropia. G-banding chromosome analysis established the diagnosis of Angelman Syndrome resulting from a familial translocation t(10;15) involving the 15q11.2 region. The available family members were studied using banding and molecular cytogenetic techniques, including Microarray-based Comparative Genomic Hybridization, which revealed additional unexpected results: a coincidental and smaller 15q deletion, asymptomatic duplications in 15q11.2 and Xp22.31 regions. This report demonstrates the usefulness of array CGH for a detailed characterization of familial translocations, including the detection of submicroscopic copy number variations, which would otherwise be missed by karyotype analysis alone. Our report also expands two molecularly characterized rare patient cohorts: Angelman Syndrome patients due to familial translocations and patients with 15q11.2 duplications of paternal origin.

  15. [Cardiovascular complications of Kawasaki syndrome: results of a French multicenter study].

    Science.gov (United States)

    Chantepie, A; Mauran, P; Lusson, J R; Vaillant, M C; Bozio, A

    2001-07-01

    Between March 1, 1995 and February 29, 1996, a multicentric prospective study was conducted in France in order to analyze the cardiovascular complications in Kawasaki syndrome, and to describe the echocardiographic features and the outcome of coronary lesions. Forty-nine cases of Kawasaki syndrome were observed. There were 32 boys and 17 girls (sex ratio: 1:9). The age at diagnosis was under one year in ten cases (20.4%), between one and five years in 27 cases (55.1%) and more than five years in 12 cases (24.5%). The complete diagnostic criteria were present in 42 cases (85.1%). Forty-five children (91.8%) were given intravenous immunoglobulin treatment but only 20 (40.8%) received this treatment within the seven days following the onset of the illness. Cardiovascular complications consisted of: pericardial effusion in 12 cases (24.5%), coronary dilation in seven cases (14.3%), coronary aneurysms of moderate size in seven cases (14.3%,) with hypokinetic left ventricle in two cases. No death was reported. All patients with coronary dilation and four patients with coronary aneurysms had a normal size of coronary arteries at echocardiography within the nine months of the follow-up. Among the three other patients, after a follow-up of two years, one still has a small coronary aneurysm and two have a normal size of coronary arteries. Despite a delayed administration of immunoglobulin therapy in the majority of patients in this study, outcome of coronary lesions was favorable and severe cardiac complications were rare in the acute phase of the Kawasaki syndrome.

  16. Sensorimotor polyneuropathy and foot-drop as result of a prostate cancer paraneoplastic syndrome

    Science.gov (United States)

    Bodkin, John J; Duff, Michael; Seereiter, Phillip J; Chevli, K Kent

    2013-01-01

    Paraneoplastic syndromes (PNS) vary in incidence and manifestation based on tumor histology. PNS secondary to urologic malignancies have an extremely low incidence. Most reported cases of PNS from urologic malignancies are associated with adenocarcinoma. Peripheral neuropathy-associated PNS from urologic malignancy are exceedingly rare. An 80-year-old male developed a paraneoplastic sensorimotor polyneuropathy and foot-drop after a diagnosis of clinical stage T2cN0M0, Gleason grade 5+4 prostate cancer. A thorough workup is needed in order to adequately assess and treat PNS. Careful analysis must be used to determine the root cause of a patient’s symptoms. PMID:24400247

  17. Treatment results of high dose cabergoline as an adjuvant therapy in six patients with established severe ovarian hyper stimulation syndrome.

    Science.gov (United States)

    Saharkhiz, Nasrin; Akbari Sene, Azadeh; Salehpour, Saghar; Tamimi, Maryam; Vasheghani Farahani, Masoumeh; Sheibani, Kourosh

    2014-10-01

    The beneficial role of cabergoline as a prophylactic agent to prevent ovarian hyper stimulation syndrome (OHSS) among high-risk patients has been demonstrated in previous studies. But data for its role as a treatment for established severe OHSS is still limited. We represent the treatment results of high dose oral cabergoline in management of six patients after the syndrome is established. High-dose oral cabergoline (1 mg daily for eight days) was prescribed as an adjuvant to symptomatic treatment for six hospitalized patients with established severe OHSS following infertility treatment cycles. In two cases OHSS resolved rapidly despite the occurrence of ongoing pregnancy. Considering the treatment outcomes of our patients, high dose cabergoline did not eliminate the need for traditional treatments, but it was a relatively effective and safe therapy in management of established severe OHSS, and prevented the increase in its severity following the occurrence of pregnancy.

  18. Sensorimotor polyneuropathy and foot-drop as result of a prostate cancer paraneoplastic syndrome

    Directory of Open Access Journals (Sweden)

    Bodkin JJ

    2013-12-01

    Full Text Available John J Bodkin,1 Michael Duff,1,2 Phillip J Seereiter Jr,3 K Kent Chevli1,31State University of New York School of Medicine and Biomedical Sciences Department of Urology, Buffalo; 2Cancer Care of Western New York, Cheektowaga; 3Western New York Urology Associates, Cheektowaga, NY, USAAbstract: Paraneoplastic syndromes (PNS vary in incidence and manifestation based on tumor histology. PNS secondary to urologic malignancies have an extremely low incidence. Most reported cases of PNS from urologic malignancies are associated with adenocarcinoma. Peripheral neuropathy-associated PNS from urologic malignancy are exceedingly rare. An 80-year-old male developed a paraneoplastic sensorimotor polyneuropathy and foot-drop after a diagnosis of clinical stage T2cN0M0, Gleason grade 5+4 prostate cancer. A thorough workup is needed in order to adequately assess and treat PNS. Careful analysis must be used to determine the root cause of a patient's symptoms.Keywords: prostate cancer, paraneoplastic syndrome, intensity-modulated radiation therapy, peripheral neuropathy

  19. Ventricular fibrillation resulting from electrolyte imbalance reveals vipoma in MEN1 syndrome.

    Science.gov (United States)

    Cavalli, Tiziana; Giudici, Francesco; Santi, Raffaella; Nesi, Gabriella; Brandi, Maria Luisa; Tonelli, Francesco

    2016-10-01

    Sporadic VIPoma is an exceedingly rare tumor with an annual incidence of 1:10 million people worldwide, yet it is described in approximately 5 % of MEN1 patients. The majority of VIPomas are malignant and radical surgery is the best therapeutic option. A 58-year-old man presented with cardiocirculatory arrest due to ventricular fibrillation. The patient had a 3-month history of epigastric pain with diarrhea. After reanimation, laboratory data revealed severe hypokalemia and hypercalcemia. Further investigations showed hyperparathyroidism, left adrenal adenoma and pituitary microprolactinoma and genetic diagnosis of MEN1 syndrome was made. Abdominal computed tomography revealed a 45 × 30 mm mass of the pancreatic head and two hepatic lesions, which proved to be neuroendocrine after 68 Ga PET and needle biopsy. Vasoactive intestinal peptide (VIP) serum level had increased. Subsequently the patient underwent pylorus-preserving pancreaticoduodenectomy and hepatic resection. Intraoperative VIP returned to normal values. Histopathology confirmed a pancreatic VIPoma metastatic to the liver. The postoperative course was unremarkable and the patient is well with no evidence of disease at a 48 months follow-up. Even in case of anusual presentation, when two or more main clinical findings of MEN1 related tumors are present, unrespectively to the presence of MEN1 mutation, MEN1 syndrome should be suspected. Surgery in MEN1 pancreatic neuroendocrine tumors is indicated both to treat symptoms and to avoid oncological progression even in advanced cases.

  20. Improving self-esteem in women diagnosed with Turner syndrome: results of a pilot intervention.

    Science.gov (United States)

    Chadwick, Paul M; Smyth, Arlene; Liao, Lih-Mei

    2014-06-01

    To evaluate a brief intervention to improve the self esteem of women diagnosed with Turner syndrome (TS). Prospective observational study. Turner Syndrome Support Society, UK. 30 women aged 18-60 years. A 1-day psychology workshop targeting problems of self-esteem in women diagnosed with TS. The workshop drew on cognitive-behavioral therapy and narrative therapy skills and emphasized increased self-awareness of interpersonal difficulties and improved capacity for self-management. Rosenberg Self-esteem Scale (RSS); Hospital Anxiety and Depression Scale (HADS); bespoke user experiences questionnaire. All 30 women provided baseline data, 27/30 provided immediate post-intervention data and 22/30 provided follow-up data at 3 months. The intervention improved RSS and HADS scores at 3 months. Generic skills-based psychological interventions have the potential to be adapted to provide brief and low-cost interventions to improve self-esteem and reduce psychological distress in women diagnosed with TS. Copyright © 2014 North American Society for Pediatric and Adolescent Gynecology. Published by Elsevier Inc. All rights reserved.

  1. [Features of Guillain-Barre syndrome in adults: results of a university hospital].

    Science.gov (United States)

    De la O-Peña, Daniel; Robles-Figueroa, Martín; Chávez-Peña, Quetzalcóatl; Bedolla-Barajas, Martín

    2015-01-01

    Guillain-Barré syndrome (GBS) has a cosmopolitan distribution. Its course is usually mild and tends to limit itself, but in severe cases it can cause death. The aim of this article is to describe the characteristics of a group of adults with GBS diagnosed and treated at a university hospital. All cases of GBS that occurred between January 1, 2005 to December 31, 2009 were analyzed. The clinical records were reviewed through the implementation of a structured survey that included the following sections: patient identification, clinical data, history of infection, season of occurrence, rates of electrophysiological variants, and lethality. A total of 45 patients were included; the male to female ratio was 1.4: 1 and the mean age was 48.2 ± 16.0 years. The season with the highest number of cases was the summer. History of intestinal infection was present in 40 % of patients, and respiratory infection in 24.4%. The lethality associated with GBS was 11.1 % (95 % CI, 4.4-23.9), fatal cases occurred in patients older than the survivors (65.2 ± 15.0 versus 46.0 ± 14.9, p = 0.01). The most common variant was acute motor axonal neuropathy (64.4 %); there were four cases of Miller Fisher syndrome. The most common electromyographic variant of GBS was acute motor axonal neuropathy. The highest number of cases was observed during the summer season.

  2. Targeted Deletion of Collagen V in Tendons and Ligaments Results in a Classic Ehlers-Danlos Syndrome Joint Phenotype

    Science.gov (United States)

    Sun, Mei; Connizzo, Brianne K.; Adams, Sheila M.; Freedman, Benjamin R.; Wenstrup, Richard J.; Soslowsky, Louis J.; Birk, David E.

    2016-01-01

    Collagen V mutations underlie classic Ehlers-Danlos syndrome, and joint hypermobility is an important clinical manifestation. We define the function of collagen V in tendons and ligaments, as well as the role of alterations in collagen V expression in the pathobiology in classic Ehlers-Danlos syndrome. A conditional Col5a1flox/flox mouse model was bred with Scleraxis-Cre mice to create a targeted tendon and ligament Col5a1-null mouse model, Col5a1Δten/Δten. Targeting was specific, resulting in collagen V–null tendons and ligaments. Col5a1Δten/Δten mice demonstrated decreased body size, grip weakness, abnormal gait, joint laxity, and early-onset osteoarthritis. These gross changes were associated with abnormal fiber organization, as well as altered collagen fibril structure with increased fibril diameters and decreased fibril number that was more severe in a major joint stabilizing ligament, the anterior cruciate ligament (ACL), than in the flexor digitorum longus tendon. The ACL also had a higher collagen V content than did the flexor digitorum longus tendon. The collagen V–null ACL and flexor digitorum longus tendon both had significant alterations in mechanical properties, with ACL exhibiting more severe changes. The data demonstrate critical differential regulatory roles for collagen V in tendon and ligament structure and function and suggest that collagen V regulatory dysfunction is associated with an abnormal joint phenotype, similar to the hypermobility phenotype in classic Ehlers-Danlos syndrome. PMID:25797646

  3. Effect of a high intake of cheese on cholesterol and metabolic syndrome: results of a randomized trial

    Science.gov (United States)

    Nilsen, Rita; Høstmark, Arne Torbjørn; Haug, Anna; Skeie, Siv

    2015-01-01

    Background Cheese is generally rich in saturated fat, which is associated with increased risk for cardiovascular diseases. Nevertheless, recent reports suggest that cheese may be antiatherogenic. Objective The goal of this study was to assess whether intake of two types of Norwegian cheese, with widely varying fat and calcium content, might influence factors of the metabolic syndrome and serum cholesterol levels differently. Design A total of 153 participants were randomized to one of three groups: Gamalost®, a traditional fat- and salt-free Norwegian cheese (50 g/day), Gouda-type cheese with 27% fat (80 g/day), and a control group with a limited cheese intake. Blood samples, anthropometric measurements, blood pressure, and questionnaires about lifestyle and diet were obtained at inclusion and end. Results At baseline, there were no differences between the groups in relevant baseline characteristics, mean age 43, 52.3% female. After 8 weeks’ intervention, there were no changes in any of the metabolic syndrome factors between the intervention groups compared with the control group. There were no increases in total- or LDL cholesterol in the cheese groups compared with the control. Stratified analysis showed that those in the Gouda group with metabolic syndrome at baseline had significant reductions in total cholesterol at the end of the trial compared with control (−0.70 mmol/L, p=0.013), and a significantly higher reduction in mean triglycerides. In the Gamalost group, those who had high total cholesterol at baseline had a significant reduction in total cholesterol compared with control (−0.40 mmol/L, p=0.035). Conclusions In conclusion, cholesterol levels did not increase after high intake of 27% fat Gouda-type cheese over 8 weeks’ intervention, and stratified analysis showed that participants with metabolic syndrome had reduced cholesterol at the end of the trial. PMID:26294049

  4. Scapular dyskinesis and SICK syndrome in patients with a chronic type III acromioclavicular dislocation. Results of rehabilitation.

    Science.gov (United States)

    Carbone, Stefano; Postacchini, Roberto; Gumina, Stefano

    2015-05-01

    Scapular dyskinesis has been related to acromioclavicular injuries. A rehabilitation protocol has been studied in order to treat scapular dyskinesis, but it has not yet been evaluated. This rehabilitation programme was adopted to improve the shoulder function, thereby improving the scapular dyskinesis in patients with chronic acromioclavicular dislocation. Twenty-four patients diagnosed with chronic type III acromioclavicular dislocation and scapular dyskinesis that have already been conservatively treated were enrolled in the rehabilitation protocol and analysed. Fourteen of these patients had a Scapular Inferior Coracoid dysKinesis (SICK) Syndrome. The adopted rehabilitation protocol consisted of 12 strengthening and stretching exercises of the scapulae. The final follow-ups were performed after 6 weeks, 6 months and 12 months using clinical measurements of scapular position and clinical evaluation of the scapular motion. In order to evaluate the SICK scapula syndrome, we used the SICK Scapula Rating Scale. The shoulder function was evaluated with a Constant Score and a Subjective Shoulder Value. After 12 months, the follow-up concluded that the scapular dyskinesis was no longer present in 18/23 patients (78.2 %). SICK scapula syndrome was observed in 4/8 patients with a scapular malposition. The Scapula Rating Scale score in 4 patients with SICK scapula was 7.5 points. After 12 months of rehabilitation, the mean Constant Score and Subjective Shoulder Value grew up to 85 points. The scapular dyskinesis and SICK syndrome secondary to chronic type III AC dislocation can be treated with the proposed rehabilitation protocol resulting in positive improvements of the shoulder function within 6 weeks; however, patients that do not respond to the rehabilitation programme will not improve with extended rehabilitation time. It is important to advise patients of the specific exercises for the prevention/treatment of scapular dyskinesis in the rehabilitation programme after

  5. Effect of a high intake of cheese on cholesterol and metabolic syndrome: results of a randomized trial

    Directory of Open Access Journals (Sweden)

    Rita Nilsen

    2015-08-01

    Full Text Available Background: Cheese is generally rich in saturated fat, which is associated with increased risk for cardiovascular diseases. Nevertheless, recent reports suggest that cheese may be antiatherogenic. Objective: The goal of this study was to assess whether intake of two types of Norwegian cheese, with widely varying fat and calcium content, might influence factors of the metabolic syndrome and serum cholesterol levels differently. Design: A total of 153 participants were randomized to one of three groups: Gamalost®, a traditional fat- and salt-free Norwegian cheese (50 g/day, Gouda-type cheese with 27% fat (80 g/day, and a control group with a limited cheese intake. Blood samples, anthropometric measurements, blood pressure, and questionnaires about lifestyle and diet were obtained at inclusion and end. Results: At baseline, there were no differences between the groups in relevant baseline characteristics, mean age 43, 52.3% female. After 8 weeks’ intervention, there were no changes in any of the metabolic syndrome factors between the intervention groups compared with the control group. There were no increases in total- or LDL cholesterol in the cheese groups compared with the control. Stratified analysis showed that those in the Gouda group with metabolic syndrome at baseline had significant reductions in total cholesterol at the end of the trial compared with control (−0.70 mmol/L, p=0.013, and a significantly higher reduction in mean triglycerides. In the Gamalost group, those who had high total cholesterol at baseline had a significant reduction in total cholesterol compared with control (−0.40 mmol/L, p=0.035. Conclusions: In conclusion, cholesterol levels did not increase after high intake of 27% fat Gouda-type cheese over 8 weeks’ intervention, and stratified analysis showed that participants with metabolic syndrome had reduced cholesterol at the end of the trial.

  6. Albuminuria and cardiovascular events in patients with acute coronary syndromes: Results from the TRACER trial.

    Science.gov (United States)

    Åkerblom, Axel; Clare, Robert M; Lokhnygina, Yuliya; Wallentin, Lars; Held, Claes; Van de Werf, Frans; Moliterno, David J; Patel, Uptal D; Leonardi, Sergio; Armstrong, Paul W; Harrington, Robert A; White, Harvey D; Aylward, Philip E; Mahaffey, Kenneth W; Tricoci, Pierluigi

    2016-08-01

    Albuminuria is associated with cardiovascular (CV) outcomes. We evaluated albuminuria, alone and in combination with estimated glomerular filtration rate (eGFR), as a predictor of mortality and CV morbidity in 12,944 patients with non-ST-segment elevation acute coronary syndromes. Baseline serum creatinine and urinary dipsticks were obtained, with albuminuria stratified into no/trace albuminuria, microalbuminuria (≥30 but albuminuria and creatinine values were available in 9473 patients (73.2%). More patients with macroalbuminuria, versus no/trace albuminuria, had diabetes (66% vs 27%) or hypertension (86% vs 68%). Rates for CV death and overall mortality per strata were 3.1% and 4.8% (no/trace albuminuria); 5.8% and 9.0% (microalbuminuria); and 7.7% and 12.6% (macroalbuminuria) at 2 years of follow-up. Corresponding rates for CV death or MI were 12.2%, 16.9%, and 23.5%, respectively. Observed acute kidney injury rates were 0.6%, 1.2%, and 2.9% (n = 79), respectively. Adjusted HRs for macroalbuminuria on CV mortality were 1.65 (95% CI 1.15-2.37), and after adjustment with eGFR, 1.37 (95% CI 0.93-2.01). Corresponding HRs for overall mortality were 1.82 (95% CI 1.37-2.42) and 1.47 (95% CI 1.08-1.98). High-risk patients with non-ST-segment elevation acute coronary syndromes and albuminuria have increased morbidity and increased overall mortality independent of eGFR. Copyright © 2016 Elsevier Inc. All rights reserved.

  7. Extended dual antiplatelet therapy after acute coronary syndrome in Spain: Results from the EPICOR study.

    Science.gov (United States)

    Bardají, Alfredo; Leal, Manuel; Arrarte, Vicente; Garcia-Moll, Xavier; Pérez de Isla, Leopoldo; Bueno, Héctor

    2017-04-01

    Real-world, country-specific studies of dual antiplatelet therapy (DAPT) duration among survivors of acute coronary syndrome (ACS) are important for improving long-term prognosis. To investigate DAPT duration after hospital discharge for ACS in Spain. Data from patients enrolled in the Spanish cohort of the EPICOR (long-tErm follow-up of antithrombotic management Patterns In acute CORonary syndrome patients) study (NCT01171404) were analyzed for changes to antithrombotic medication up to 2 years postdischarge according to index event diagnosis and patient characteristics. Deaths, coronary events, and bleeding events were analyzed over the same period. Overall, a high proportion of patients remained on DAPT at 2 years (53.1%). Among patients who experienced any on-treatment bleeding event, almost two-thirds remained on DAPT at the end of follow-up. Patients >65 years, diabetic, or those that were medically managed were more likely to continue with DAPT until 2 years following discharge. At 2 years, the incidence of bleeding events requiring hospitalization was low compared with the incidence of coronary events (1.4% vs 6.6%). There was a numerical reduction in coronary events, but no increase in bleeding events, with DAPT continuation compared with single antiplatelet therapy. More than half of patients in this unselected cohort study remained on DAPT at 2 years following discharge for ACS. Continuation with DAPT was greater among patients with additional cardiovascular risk factors, which suggests that treating physicians in Spain prioritizes ischemic risk reduction over bleeding risk in patients with ACS, according to patient's risk profile. © 2016 John Wiley & Sons Ltd.

  8. CHARACTERISTICS OF WEST SYNDROME IN GEORGIA, PRELIMINARY RESULTS OF THE PROSPECTIVE STUDY.

    Science.gov (United States)

    Kvernadze, A; Tatishvili, N; Kipiani, T; Lomidze, G

    2017-11-01

    West syndrome hasn't been thoroughly investigated in Georgia. The purposes of our study were a) to assess the clinical and etiological peculiarities of West syndrome, based on MRI data and its relation to the long-term outcome; b) to assess the evolution of West syndrome and its relation to patient characteristics; c) to compare the efficacies of treatments with ACTH and antiepileptic drugs (AEDs); d) to evaluate the neuropsychological outcome after 12 and 24 months and their early predictors. We evaluated 31 patients (17 male, 14 female) with infantile spasms. Mean age of seizure onset was 6.3 months. Inclusion criteria were newly diagnosed patients with infantile spasms from 2 to 18 months, abnormal EEG and written informed consent of parents/ caregivers. We collected birth, family and seizure detailed history. All patients were examined neurologically, investigated with prolonged sleep and awake video - EEG, brain MRI, developmental screening tests (Ages & Stages Questionnaires®, Third Edition, ASQ-3™) at the time of admission. Spasm diary was given and filled by every parent/caregiver. The video-recording of seizures to study the detailed phenomenology of event was done in all cases as well. In 94% of patients (n=29) spasm were observed in clusters. EEG investigation revealed hypsarrhythmia in majority of cases (n=20; 65%). 19% (n=6) and 16% (n=5) patients had modified hypsarrhythmia and other types of EEG changes respectively. In 19 (61%) cases neurological examination was normal. 7 patients (22.6%) showed normal neuropsychological development. In remaining 12 (38.7%) and 12 (38.7%) cases moderate and severe delay of development was revealed accordingly. MRI investigation revealed no abnormality in 16% (n=5). 16 (52%) individuals were treated with ACTH only. In 12 (39%) cases ACTH and AED were used simultaneously and 2 (6.5%) cases were treated with AED only. One year follow-up assessments were provided in 22 (74%) cases. One patient died during the study

  9. The Erlangen Dose Optimization Trial for radiotherapy of benign painful shoulder syndrome. Long-term results

    Energy Technology Data Exchange (ETDEWEB)

    Ott, O.J.; Hertel, S.; Gaipl, U.S.; Frey, B.; Schmidt, M.; Fietkau, R. [University Hospital Erlangen, Department of Radiation Oncology, Erlangen (Germany)

    2014-04-15

    To evaluate the long-term efficacy of pain reduction by two dose-fractionation schedules for radiotherapy of painful shoulder syndrome. Between February 2006 and February 2010, 312 evaluable patients were recruited for this prospective trial. All patients received low-dose orthovoltage radiotherapy. One course consisted of 6 fractions in 3 weeks. In the case of insufficient pain remission after 6 weeks, a second course was administered. Patients were randomly assigned to one of two groups to receive single doses of either 0.5 or 1.0 Gy. Endpoint was pain reduction. Pain was measured before radiotherapy, as well as immediately after (early response), 6 weeks after (delayed response) and approximately 3 years after (long-term response) completion of radiotherapy using a questionnaire-based visual analogue scale (VAS) and a comprehensive pain score (CPS). Median follow-up was 35 months (range 11-57). The overall early, delayed and long-term response rates for all patients were 83, 85 and 82%, respectively. The mean VAS scores before treatment and those for early, delayed and long-term response in the 0.5- and 1.0-Gy groups were 56.8±23.7 and 53.2±21.8 (p=0.16); 38.2±36.1 and 34.0±24.5 (p=0.19); 33.0±27.2 and 23.7±22.7 (p=0.04) and 27.9±25.8 and 32.1±26.9 (p=0.25), respectively. The mean CPS values before treatment and those for early, delayed and long-term response were 9.7±3.0 and 9.5±2.7 (p=0.31); 6.1±3.6 and 5.4±3.6 (p=0.10); 5.3±3.7 and 4.1±3.7 (p=0.05) and 4.0±3.9 and 5.3±4.4 (p=0.05), respectively. No significant differences in the quality of the long-term response were found between the 0.5- and 1.0-Gy arms (p=0.28). Radiotherapy is an effective treatment for the management of benign painful shoulder syndrome. For radiation protection reasons, the dose for a radiotherapy series should not exceed 3.0 Gy. (orig.)

  10. Patterns of Guillain-Barre syndrome in children: results from a Mexican population.

    Science.gov (United States)

    Nachamkin, I; Arzarte Barbosa, P; Barbosa, P Arzate; Ung, Huong; Ung, H; Lobato, C; Gonzalez Rivera, A; Rivera, A Gonzalez; Rodriguez, P; Garcia Briseno, A; Briseno, A Garcia; Cordero, L Maria; Garcia Perea, L; Perea, L Garcia; Perez, J Carlos; Ribera, M; Aldama, P Chico; Guitérrez, G Dávila; Sarnat, L Flores; García, M Ruiz; Veitch, J; Fitzgerald, C; Cornblath, D R; Cornblath, D; Rodriguez Pinto, M; Pinto, M Rodriguez; Griffin, J W; Willison, H J; Asbury, A K; McKhann, G M

    2007-10-23

    Guillain-Barré syndrome (GBS) is an acute, immune-mediated flaccid paralysis frequently associated with Campylobacter infection. Of two predominant GBS subtypes, a demyelinating subtype (acute inflammatory demyelinative polyneuropathy [AIDP]) predominates in the United States and Europe, and axonal subtype (acute motor axonal neuropathy [AMAN]) is the predominant form in China. Previous clinical studies suggested that AMAN also occurs in Mexican children. The purpose of this study was to describe the subtypes of GBS in children from Mexico City. We prospectively studied 121 children admitted to two pediatric hospitals in Mexico City from 1996 to 2002. Clinical histories were obtained, electrophysiologic studies were performed to determine GBS subtype, and microbiologic studies were performed. Of the 121 children, 46 had AMAN and 32 had AIDP. The male to female ratio was 1.3 for AMAN cases (mean age = 6.3) and 3.0 for AIDP cases (mean age = 7.0). There was a strong seasonal distribution of AMAN cases in July to September. Children with AMAN, but not AIDP, had worsening of illness during hospitalization as judged by peak severity scores. Vomiting was more likely in AIDP (28.1%) vs AMAN (6.5%) (p = 0.012) and diarrhea was more common in AMAN (32.6%) than AIDP (12.5%) (p = 0.06). IgG anti-GM1 antibody titers were higher in patients with AMAN vs AIDP (p = 0.067). Anti-GD1a antibodies were equally present in both groups. Anti GQ1b titers were higher in AMAN vs AIDP (p = 0.009). Campylobacter antibody responses were positive in 44.1% of patients with AMAN and 37.0% of patients with AIDP. Twenty patients (14 = AMAN, 6 = AIDP) had positive stool cultures for C jejuni. Two serotypes, HS:19 and HS:41, accounted for 6 of 10 Campylobacter isolates available for serotyping from these cases. This study confirms that acute motor axonal neuropathy is an important Guillain-Barré syndrome subtype in Mexican children, is associated with diarrhea, and occurs seasonally.

  11. Diffusion tensor imaging and tractography of the median nerve in carpal tunnel syndrome: preliminary results

    Energy Technology Data Exchange (ETDEWEB)

    Khalil, C.; Hancart, C.; Thuc, V.Le; Cotten, A. [Service de Radiologie Osteoarticulaire, Hopital Roger Salengro, CHRU de Lille (France); Chantelot, C. [Clinique d' Orthopedie, Hopital Roger Salengro, CHRU de Lille (France); Chechin, D. [Philips Medical Systems, Suresnes (France)

    2008-10-15

    The purpose was to demonstrate the feasibility of in vivo diffusion tensor imaging (DTI) and tractography of the human median nerve with a 1.5-T MR scanner and to assess potential differences in diffusion between healthy volunteers and patients suffering from carpal tunnel syndrome. The median nerve was examined in 13 patients and 13 healthy volunteers with MR DTI and tractography using a 1.5-T MRI scanner with a dedicated wrist coil. T1-weighted images were performed for anatomical correlation. Mean fractional anisotropy (FA) and mean apparent diffusion coefficient (ADC) values were quantified in the median nerve on tractography images. In all subjects, the nerve orientation and course could be detected with tractography. Mean FA values were significantly lower in patients (p=0.03). However, no statistically significant differences were found for mean ADC values. In vivo assessment of the median nerve in the carpal tunnel using DTI with tractography on a 1.5-T MRI scanner is possible. Microstructural parameters can be easily obtained from tractography images. A significant decrease of mean FA values was found in patients suffering from chronic compression of the median nerve. Further investigations are necessary to determine if mean FA values may be correlated with the severity of nerve entrapment. (orig.)

  12. Results of an Active Neurodynamic Mobilization Program in Patients With Fibromyalgia Syndrome: A Randomized Controlled Trial.

    Science.gov (United States)

    Torres, Janet Rodríguez; Martos, Irene Cabrera; Sánchez, Irene Torres; Rubio, Araceli Ortíz; Pelegrina, Ana Díaz; Valenza, Marie Carmen

    2015-10-01

    To examine the effects of an active neurodynamic mobilization program on pain, neurodynamics, perceived health state, and fatigue in patients with fibromyalgia syndrome (FMS). Randomized controlled trial. Local fibromyalgia association. Patients with FMS (N=48). Patients were randomly allocated to an active neurodynamic mobilization program or a control group. The intervention was performed twice a week. Pain was assessed with the Brief Pain Inventory and Pain Catastrophizing Scale; neurodynamics were evaluated using neurodynamic tests for upper and lower limbs. The functional state was evaluated with the Health Assessment Questionnaire Disability Index, and perceived fatigue was evaluated with the Fatigue Severity Scale. Significant (Pneurodynamics, functional state, and fatigue. Also, significant pre- to postintervention within-group differences were found in the intervention group, whereas no significant changes were found in the control group. A neurodynamic mobilization program is effective in improving pain, neurodynamics, functional status, and fatigue in patients with FMS. Copyright © 2015 American Congress of Rehabilitation Medicine. Published by Elsevier Inc. All rights reserved.

  13. The burden of familial chylomicronemia syndrome: interim results from the IN-FOCUS study.

    Science.gov (United States)

    Davidson, Michael; Stevenson, Michael; Hsieh, Andrew; Ahmad, Zahid; Crowson, Caroline; Witztum, Joseph L

    2017-05-01

    Familial Chylomicronemia Syndrome (FCS) is a rare genetic disorder that is caused by a decrease or an absence of lipoprotein lipase activity. FCS is characterized by marked accumulation of chylomicrons and extreme hypertriglyceridemia, which have major effects on both physical and mental health. To date, there have been no systematic efforts to characterize the impact of chylomicronemia on FCS patients' lives. In particular, the impact of FCS on the burden of illness (BoI) and quality of life (QoL) has not been fully described in the literature. IN-FOCUS was a comprehensive web-based research survey of patients with FCS focused on capturing the BoI and impact on QoL associated with FCS. Sixty patients from the US diagnosed with FCS participated. Patients described multiple symptoms spanning across physical, emotional and cognitive domains. Patients on average cycled through 5 physicians of varying specialty before being diagnosed with FCS, reflecting a lengthy journey to diagnosis Nearly all respondents indicated that FCS had a major impact on BoI and QoL and significantly influenced their career choice and employment status, and caused significant work loss due to their disease. FCS imparts a considerable burden across multiple domains with reported impairment on activities of daily living and QoL.

  14. AGE AND GENDER MAY INFLUENCE THE RESULTS OF ROUX-EN-Y GASTRIC BYPASS? Metabolic syndrome parameters

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    Stephan Garcia ANDRADE-SILVA

    2014-09-01

    Full Text Available Context Severe obesity affects the body favoring the development of serious diseases, including hypertension, diabetes mellitus, atherosclerosis and non alcoholic fatty liver disease. Bariatric procedures increased in Brazil in the last decade. Objectives The purpose of this study was to verify if gender and age in date of procedure resulted significant differences in metabolic syndrome parameters after surgery. Methods The study involved 205 medical records of adult patients undergoing Roux-en-Y gastric bypass, stratified by gender and age groups and followed one year by a multidisciplinary team. Results It was observed significant decrease in body mass index, fasting glucose and insulin at all ages and both genders. Lipid profile showed significant improvements except high density lipoprotein cholesterol. Ectopic fat in the liver has decreased after 6 months in patients classified with steatosis at baseline. Patients classified as hypertensive blood pressure levels decreased 6 months after surgical intervention. Conclusions Roux-en-Y gastric bypass proved to be an important tool in remission of metabolic syndrome parameters. The reduction of body mass accompanied to decrease in insulin resistance resulted in lower prevalence of comorbidities associated with obesity. The benefits were similar and extended both genders and all age groups between 18 and 65 years old.

  15. The Erlangen Dose Optimization Trial for radiotherapy of benign painful shoulder syndrome. Long-term results.

    Science.gov (United States)

    Ott, O J; Hertel, S; Gaipl, U S; Frey, B; Schmidt, M; Fietkau, R

    2014-04-01

    To evaluate the long-term efficacy of pain reduction by two dose-fractionation schedules for radiotherapy of painful shoulder syndrome. Between February 2006 and February 2010, 312 evaluable patients were recruited for this prospective trial. All patients received low-dose orthovoltage radiotherapy. One course consisted of 6 fractions in 3 weeks. In the case of insufficient pain remission after 6 weeks, a second course was administered. Patients were randomly assigned to one of two groups to receive single doses of either 0.5 or 1.0 Gy. Endpoint was pain reduction. Pain was measured before radiotherapy, as well as immediately after (early response), 6 weeks after (delayed response) and approximately 3 years after (long-term response) completion of radiotherapy using a questionnaire-based visual analogue scale (VAS) and a comprehensive pain score (CPS). Median follow-up was 35 months (range 11-57). The overall early, delayed and long-term response rates for all patients were 83, 85 and 82 %, respectively. The mean VAS scores before treatment and those for early, delayed and long-term response in the 0.5- and 1.0-Gy groups were 56.8 ± 23.7 and 53.2 ± 21.8 (p = 0.16); 38.2 ± 36.1 and 34.0 ± 24.5 (p = 0.19); 33.0 ± 27.2 and 23.7 ± 22.7 (p = 0.04) and 27.9 ± 25.8 and 32.1 ± 26.9 (p = 0.25), respectively. The mean CPS values before treatment and those for early, delayed and long-term response were 9.7 ± 3.0 and 9.5 ± 2.7 (p = 0.31); 6.1 ± 3.6 and 5.4 ± 3.6 (p = 0.10); 5.3 ± 3.7 and 4.1 ± 3.7 (p = 0.05) and 4.0 ± 3.9 and 5.3 ± 4.4 (p = 0.05), respectively. No significant differences in the quality of the long-term response were found between the 0.5- and 1.0-Gy arms (p = 0.28). Radiotherapy is an effective treatment for the management of benign painful shoulder syndrome. For radiation protection reasons, the dose for a radiotherapy series should

  16. Describing Kawasaki shock syndrome: results from a retrospective study and literature review.

    Science.gov (United States)

    Taddio, Andrea; Rossi, Eleonora Dei; Monasta, Lorenzo; Pastore, Serena; Tommasini, Alberto; Lepore, Loredana; Bronzetti, Gabriele; Marrani, Edoardo; Mottolese, Biancamaria D'Agata; Simonini, Gabriele; Cimaz, Rolando; Ventura, Alessandro

    2017-01-01

    Kawasaki shock syndrome (KSS) is a rare manifestation of Kawasaki disease (KD) characterized by systolic hypotension or clinical signs of poor perfusion. The objectives of the study are to describe the main clinical presentation, echocardiographic, and laboratory findings, as well as the treatment options and clinical outcomes of KSS patients when compared with KD patients. This is a retrospective study. All children referred to two pediatric rheumatology units from January 1, 2012, to December 31, 2014, were enrolled. Patients were divided into patients with or without KSS. We compared the two groups according to the following variables: sex, age, type of KD (classic, with less frequent manifestations, or incomplete), clinical manifestations, cardiac involvement, laboratory findings, therapy administered, response to treatment, and outcome. Eighty-four patients with KD were enrolled. Of these, five (6 %) met the criteria for KSS. Patients with KSS had higher values of C-reactive protein (p = 0.005), lower hemoglobin levels (p = 0.003); more frequent hyponatremia (p = 0.004), hypoalbuminemia (p = 0.004), and coagulopathy (p = 0.003); and increase in cardiac troponins (p = 0.000). Among the KSS patients, three had a coronary artery involvement, but none developed a permanent aneurysm. Intravenous immunoglobulin resistance was more frequent in the KSS group, although not significantly so (3/5, 60 % vs. 23/79, 30 %, P = NS). None of the five cases was fatal, and all recovered without sequelae. KSS patients are more likely to have higher rates of cardiac involvement. However, most cardiovascular abnormalities resolved promptly with therapy.

  17. Risk Factors for Ulnar Nerve Instability Resulting in Transposition in Patients With Cubital Tunnel Syndrome.

    Science.gov (United States)

    Matzon, Jonas L; Lutsky, Kevin F; Hoffler, C Edward; Kim, Nayoung; Maltenfort, Mitchell; Beredjiklian, Pedro K

    2016-02-01

    To assess the incidence of ulnar nerve instability in patients undergoing in situ decompression and to identify preoperative risk factors to predict the need for transposition. Using our surgical database, we retrospectively identified 363 patients who were candidates for in situ ulnar nerve decompression for the treatment of cubital tunnel syndrome over a 5-year period. During this time, the 3 participating surgeons considered ulnar nerve instability to be a contraindication for in situ ulnar nerve decompression. We collected demographic data including sex, age, weight, height, and body mass index. We recorded the number of patients who underwent ulnar nerve transposition owing to ulnar nerve instability and evaluated whether ulnar nerve instability was diagnosed before, during, or after surgery. Of the 363 patients who were considered for in situ ulnar nerve decompression, 76 patients (21%) underwent ulnar nerve transposition secondary to ulnar nerve instability. Twenty-nine patients (8%) were identified with instability before surgery, and 44 patients (12%) were identified with instability during surgery following in situ decompression. Three patients (1%) were not diagnosed with instability until after surgery and subsequently underwent secondary transposition. Patients who underwent transposition owing to instability were more likely to be male and to be younger. A notable percentage of patients with a stable nerve before surgery will have ulnar nerve instability following decompression. Identification of factors correlating to instability and the potential need for transposition can aid surgeons and patients in preoperative planning. Copyright © 2016 American Society for Surgery of the Hand. Published by Elsevier Inc. All rights reserved.

  18. Association between Milk Consumption and Metabolic Syndrome among Korean Adults: Results from the Health Examinees Study.

    Science.gov (United States)

    Shin, Sangah; Lee, Hwi-Won; Kim, Claire E; Lim, Jiyeon; Lee, Jong-Koo; Kang, Daehee

    2017-10-08

    It has been suggested that a greater dairy consumption, particularly of milk, may have contributed in lowering the prevalence of metabolic syndrome (MetS). A cross-sectional analysis was conducted to examine the association between milk consumption and MetS, and its components among Korean adults aged 40-69. A total of 130,420 subjects (43,682 men and 86,738 women) from the Health Examinees Study were selected for the final analysis. Milk consumption was estimated using a validated 106-item food frequency questionnaire. MetS was defined using the National Cholesterol Education Program, Adult Treatment Panel III (NCEP III). Logistic regression analyses were performed to calculate the odds ratios (ORs) and 95% confidence intervals (CIs) between milk consumption and MetS after adjusting for potential confounders. In this study, the average milk consumption was 77.9 g/day, with the overall prevalence of MetS being 26.1% (29.1% in men and 24.6% in women). We found that the prevalence of the MetS was significantly lower in subjects with higher milk consumption (p milk consumption category (≥1 serving/day among men; ≥2 serving/day among women) than those in the lowest milk consumption category (OR: 0.92 95%CI: 0.86-0.99, p trend = 0.0160 in men; OR: 0.68, 95%CI: 0.60-0.76, p trend milk consumption was inversely associated with the MetS components: elevated waist circumference, elevated triglyceride, and reduced high-density lipoprotein cholesterol (HDL-C) (all p trend milk consumption is associated with the lower odds of MetS in Korean adults.

  19. Association between Milk Consumption and Metabolic Syndrome among Korean Adults: Results from the Health Examinees Study

    Directory of Open Access Journals (Sweden)

    Sangah Shin

    2017-10-01

    Full Text Available It has been suggested that a greater dairy consumption, particularly of milk, may have contributed in lowering the prevalence of metabolic syndrome (MetS. A cross-sectional analysis was conducted to examine the association between milk consumption and MetS, and its components among Korean adults aged 40–69. A total of 130,420 subjects (43,682 men and 86,738 women from the Health Examinees Study were selected for the final analysis. Milk consumption was estimated using a validated 106-item food frequency questionnaire. MetS was defined using the National Cholesterol Education Program, Adult Treatment Panel III (NCEP III. Logistic regression analyses were performed to calculate the odds ratios (ORs and 95% confidence intervals (CIs between milk consumption and MetS after adjusting for potential confounders. In this study, the average milk consumption was 77.9 g/day, with the overall prevalence of MetS being 26.1% (29.1% in men and 24.6% in women. We found that the prevalence of the MetS was significantly lower in subjects with higher milk consumption (p < 0.0001. Adjusted OR for MetS was significantly lower in the highest milk consumption category (≥1 serving/day among men; ≥2 serving/day among women than those in the lowest milk consumption category (OR: 0.92 95%CI: 0.86–0.99, p trend = 0.0160 in men; OR: 0.68, 95%CI: 0.60–0.76, p trend < 0.0001 in women. Overall, higher milk consumption was inversely associated with the MetS components: elevated waist circumference, elevated triglyceride, and reduced high-density lipoprotein cholesterol (HDL-C (all p trend < 0.05. This study concludes that higher milk consumption is associated with the lower odds of MetS in Korean adults.

  20. Novel Homozygous Missense Mutation in SPG20 Gene Results in Troyer Syndrome Associated with Mitochondrial Cytochrome c Oxidase Deficiency.

    Science.gov (United States)

    Spiegel, Ronen; Soiferman, Devorah; Shaag, Avraham; Shalev, Stavit; Elpeleg, Orly; Saada, Ann

    2017-01-01

    Troyer syndrome is an autosomal recessive form of hereditary spastic paraplegia (HSP) caused by deleterious mutations in the SPG20 gene. Although the disease is associated with a loss of function mechanism of spartin, the protein encoded by SPG20, the precise pathogenesis is yet to be elucidated. Recent data indicated an important role for spartin in both mitochondrial maintenance and function. Here we report a child presenting with progressive spastic paraparesis, generalized muscle weakness, dysarthria, impaired growth, and severe isolated decrease in muscle cytochrome c oxidase (COX) activity. Whole exome sequencing identified the homozygous c.988A>G variant in SPG20 gene (p.Met330Val) resulting in almost complete loss of spartin in skeletal muscle. Further analyses demonstrated significant tissue specific reduction of COX 4, a nuclear encoded subunit of COX, in muscle suggesting a role for spartin in proper mitochondrial respiratory chain function mediated by COX activity. Our findings need to be verified in other Troyer syndrome patients in order to classify it as a form of HSP caused by mitochondrial dysfunction.

  1. Six-year results of a randomized, prospective trial of human growth hormone and oxandrolone in Turner syndrome.

    Science.gov (United States)

    Rosenfeld, R G; Frane, J; Attie, K M; Brasel, J A; Burstein, S; Cara, J F; Chernausek, S; Gotlin, R W; Kuntze, J; Lippe, B M

    1992-07-01

    Seventy girls with Turner syndrome, verified by karyotype, were randomly assigned to observation or treatment with human growth hormone (hGH), oxandrolone, or a combination of hGH plus oxandrolone for a period of 12 to 24 months, to assess the effect of treatment on growth velocity and adult height. Subsequently, all subjects received either hGH alone or hGH plus oxandrolone. Data are presented for 62 subjects treated for a period of 3 to 6 years. When compared with the anticipated growth rate in untreated patients, the growth rate after treatment with hGH, both alone and in combination with oxandrolone, showed a sustained increase for at least 6 years. Treatment is continuing in over half of the subjects; at present, 14 (82%) of 17 girls receiving hGH alone and 41 (91%) of 45 girls receiving combination therapy exceeded their expected adult heights. Thirty girls have completed treatment; mean height for these 30 patients is 151.9 cm, compared with their mean original projected adult height of 143.8 cm. We conclude that therapy with hGH, alone and in combination with oxandrolone, can result in a sustained increase in growth rate and a significant increase in adult height for most prepubertal girls with Turner syndrome.

  2. Long-Term Results of Serial Transverse Enteroplasty with Neovalve Creation for Extreme Short Bowel Syndrome: Report of Two Cases

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    Mireia Botey

    2017-04-01

    Full Text Available Objective: The aim of this article was to determine whether serial transverse enteroplasty (STEP and the creation of a new ileocecal valve in extreme short bowel syndrome (SBS cases (<45 cm is effective in intestinal adaptation and improvement of nutritional parameters and serum citrulline levels. Patients and Methods: We present 2 cases of SBS treated with STEP. Enterectomy was performed for massive intestinal ischemia secondary to a gastrointestinal stromal tumor in the first case and to catastrophic antiphospholipid syndrome in the second. After enterectomy, the short residual bowel measured 34 cm in the first patient and 45 cm in the second. In both cases STEP, cholecystectomy, and gastrostomy were performed. In the first case a Brooke neovalve was created, and in the other the ileocecal valve was preserved. Results: Both patients could finally be weaned off total parenteral nutrition (TPN and gastrostomy feeding, maintaining a good nutritional status 1 year after surgery. Conclusions: In extreme SBS, a minimum length of 80–90 cm of functioning small bowel and an intact ileocecal valve are necessary. We plead for the use of STEP with preservation of the ileocecal valve or creation of a neovalve using the Brooke technique in order to achieve the ultimate goal, which is to wean patients off TPN. After a critical review of different surgical techniques, a treatment algorithm is proposed.

  3. A Case of Waterhouse-Friderichsen Syndrome Resulting from an Invasive Pneumococcal Infection in a Patient with a Hypoplastic Spleen

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    Kazumasa Emori

    2016-01-01

    Full Text Available A 50-year-old male was brought to our emergency department by ambulance with complaints of pain and numbness in both legs. At arrival, purple spots were evident on his neck and face. Examination of the vital sign indicated septic shock. Laboratory data and blood gas analysis revealed disseminated intravascular coagulation, multiple organ failure, and metabolic acidosis. Peripheral blood smears revealed Howell-Jolly bodies, indicating decreased splenic function. A rapid urinary pneumococcal antigen test was also found to be positive. After admission to the intensive care unit, extensive treatment, including polymyxin-B direct hemoperfusion and administration of methylprednisolone and broad spectrum antibiotics was immediately initiated. Despite of our efforts to save his life, the patient died six hours after the arrival. The following day, blood cultures revealed the presence of Streptococcus pneumoniae. An autopsy revealed a hypoplastic spleen and a bilateral adrenal hemorrhage, indicating acute adrenal insufficiency caused by sepsis. Finally, the patient was diagnosed with Waterhouse-Friderichsen syndrome. Although severe infection may be seen in the splenectomized patients, it should be noted that patients with a hypoplastic spleen may have acute severe infections. We, therefore, report a case of Waterhouse-Friderichsen syndrome resulting from an invasive pneumococcal infection in a patient with a hypoplastic spleen.

  4. A Case of Waterhouse-Friderichsen Syndrome Resulting from an Invasive Pneumococcal Infection in a Patient with a Hypoplastic Spleen.

    Science.gov (United States)

    Emori, Kazumasa; Takeuchi, Nobuhiro; Soneda, Junichi

    2016-01-01

    A 50-year-old male was brought to our emergency department by ambulance with complaints of pain and numbness in both legs. At arrival, purple spots were evident on his neck and face. Examination of the vital sign indicated septic shock. Laboratory data and blood gas analysis revealed disseminated intravascular coagulation, multiple organ failure, and metabolic acidosis. Peripheral blood smears revealed Howell-Jolly bodies, indicating decreased splenic function. A rapid urinary pneumococcal antigen test was also found to be positive. After admission to the intensive care unit, extensive treatment, including polymyxin-B direct hemoperfusion and administration of methylprednisolone and broad spectrum antibiotics was immediately initiated. Despite of our efforts to save his life, the patient died six hours after the arrival. The following day, blood cultures revealed the presence of Streptococcus pneumoniae. An autopsy revealed a hypoplastic spleen and a bilateral adrenal hemorrhage, indicating acute adrenal insufficiency caused by sepsis. Finally, the patient was diagnosed with Waterhouse-Friderichsen syndrome. Although severe infection may be seen in the splenectomized patients, it should be noted that patients with a hypoplastic spleen may have acute severe infections. We, therefore, report a case of Waterhouse-Friderichsen syndrome resulting from an invasive pneumococcal infection in a patient with a hypoplastic spleen.

  5. Long-term results of treatment with bosentan in adult Eisenmenger's syndrome patients with Down's syndrome related to congenital heart disease.

    Science.gov (United States)

    Crepaz, Roberto; Romeo, Cristina; Montanaro, Donato; De Santis, Stefano

    2013-09-18

    Patients with Down's syndrome and shunt lesions are at high risk of developing pulmonary arterial hypertension (PAH) earlier than patients without Down's syndrome. However, data on the efficacy of PAH-specific therapy in patients with Down's syndrome are limited. The aim of this retrospective analysis was to determine the long-term efficacy of the dual endothelin receptor antagonist, bosentan, in Eisenmenger's syndrome (ES) patients with Down's syndrome. In this observational study adults with Down's syndrome with a confirmed diagnosis of ES (World Health Organization functional class III) and receiving bosentan therapy and were followed up long term. Clinical evaluation at baseline and follow-up visits included resting transcutaneous arterial oxygen saturation and laboratory assessments. Exercise capacity was evaluated using a 6-minute walk test where transcutaneous arterial oxygen saturation at peak exercise (SpO2), 6-minute walk distance (6MWD) and Borg dyspnoea index were assessed. A full echocardiographic assessment was conducted at baseline and follow-up visits. Overall, seven adults (mean age 29.6 ± 11.2 years; 57% male) received bosentan at a starting dose of 62.5 mg twice daily. This was increased to the target dose of 125 mg twice daily 4 weeks later. All patients remained on bosentan until the end of the study. After a mean (± standard deviation) duration of 52.2 ± 3.9 months (range: 46.0-55.5 months), 6MWD had increased from 199.6 ± 69.1 metres to 303.7 ± 99.9 metres (P syndrome. These data confirm that the presence of Down's syndrome does not affect the response to oral bosentan therapy.

  6. Do Pregnancy and Parenthood Affect the Course of PCO Syndrome? Initial Results from the LIPCOS Study (Lifestyle Intervention for Patients with Polycystic Ovary Syndrome [PCOS]).

    Science.gov (United States)

    Stassek, J; Ohnolz, F; Hanusch, Y; Schmidmayr, M; Berg, D; Kiechle, M; Seifert-Klauss, V R

    2015-11-01

    Introduction: The impact of pregnancy and parenthood on the long-term course of PCOS (polycystic ovary syndrome is still not known. The LIPCOS study (Lifestyle Intervention for Patients with Polycystic Ovary Syndrome [PCOS] - using the example of pregnancy and parenthood) systematically investigates long-term changes in PCOS symptoms. Method and Patients: The LIPCOS pilot study sent out a questionnaire to 403 patients who had presented with oligomenorrhea between 1991 and 2002. The prospective LIPCOS main study systematically investigated 64 women using structured interviews about lifestyle changes in the last 10 years, created a detailed hormone profile of these women and carried out vaginal ultrasound to calculate ovarian score. Results: Ovarian volume and ovarian score were not significantly lower for women with children (n = 25) compared to women with PCOS who had not had children (n = 39; p = 0.226). More women with children than women who did not have children currently reported a regular daily lifestyle, and the difference was statistically significant (92 % [n = 23/25] vs. 61.5 % [n = 24/39]; p = 0.009). Ten years ago or before the birth of their first child, respectively, no such difference was found between both groups (52 vs. 51.3 %). Over the last 10 years, women with children were more likely to have shorter cycles compared to women without children (p = 0.441). 88 % of women with children compared to 69.2 % of women without children reported that currently they had a "healthy diet" (p = 0.130). Serum testosterone levels were slightly lower for women with children (67.6 % of the upper limits of normal ranges) compared to women without children (80 % of the upper limits of normal ranges), but because of the small subgroup sizes the difference was not statistically significant (p = 0.106). Conclusion: The LIPCOS study shows for the first time that pregnancy and parenthood may have an impact on the long

  7. Establishing the tolerability and performance of tamarind seed polysaccharide (TSP in treating dry eye syndrome: results of a clinical study

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    Valente Cristiana

    2007-03-01

    Full Text Available Abstract Background One of the problems arising from available preparations for dry eye syndrome is the limited residence time of products on the ocular surface. In this paper, we look at an innovative new treatment for dry eye, tamarind seed polysaccharide (TSP. TSP possesses mucomimetic, mucoadhesive and pseudoplastic properties. The 'mucin-like' molecular structure of TSP is similar to corneal and conjunctival mucin 1 (MUC1, a transmembrane glycoprotein thought to play an essential role in protecting and wetting the corneal surface and may explain its increased retention on the eye surface. Methods The activity of TSP and hyaluronic acid (HA in the treatment of dry eye syndrome was compared in an open-label, randomised, single-centre clinical study. Thirty patients were randomised to receive three or more applications per day of either TSP 0.5%, TSP 1% or HA 0.2% (Hyalistil™ over a period of 90 days. The primary objective of tolerability was assessed by visual analogue scale (VAS, scoring of specific symptoms and the incidence of adverse events. Secondary objectives included improvement in stability of the precorneal tear film, subjective symptoms and corneal and conjunctival staining. Results TSP 0.5% and 1% were comparable to HA 0.2% with regard to both primary and secondary objective parameters. TSP 1% showed benefits over HA 0.2% for the subjective symptoms; trouble blinking, ocular burning and foreign body sensation. Conclusion This study suggests that TSP 0.5% and 1% offer at least equivalent relief to HA 0.2% for dry eye syndrome. All treatments demonstrated optimal tolerability and are suitable for frequent use in the therapy of dry eye. TSP 1% produced promising results in terms of improvements in certain patient symptoms and suggests benefits of the TSP formulation. This study paves the way for a larger study to further establish the performance and safety of TSP compared with HA and highlights the need to expand this therapeutic

  8. The Correlation Between Electrodiagnostic Results and Ultrasonographic Findings in the Severity of Carpal Tunnel Syndrome in Females

    Science.gov (United States)

    2017-01-01

    Objective To determine which ultrasonographic measurement can be used as an indicator reflecting the severity of carpal tunnel syndrome (CTS), by comparing electrodiagnostic results with ultrasonographic measurements in females. Many previous studies have tried to reveal that the ultrasonography (US) can possibility be used for diagnosis and severity of CTS. However, the criteria are different by gender. Thus far, there have been many efforts towards providing patients with a CTS diagnosis and severity prediction using US, but studies' results are still unclear due to lack of data on gender differences. Methods We collected data from 54 female patients. We classified the severity of CTS according to electrodiagnostic results. Ultrasonographic measurements included proximal and distal cross-sectional areas of the median nerve and carpal tunnel. Results The severity by electrodiagnostic results statistically correlated to the proximal cross-sectional area (CSA) of the median nerve and carpal tunnel. However, there was no relationship between the proximal and distal nerve/tunnel indexes and the severity by electrodiagnostic results. Conclusion In female patients with CTS, the proximal CSAs of the median nerve and carpal tunnel increase. They correlate with the severity by electrodiagnostic findings. The CSA of the proximal median nerve could be particularly used as a predictor of the severity of CTS in female patients. However, the nerve/tunnel index is constant, irrespective of the severity of CTS. PMID:28971044

  9. [So-called "celery-carrot-mugwort-spice syndrome." RAST results with new spice discs].

    Science.gov (United States)

    Dietschi, R; Wüthrich, B; Johannsson, S G

    1987-04-01

    RAST investigations on the sera of 27 patients suffering from celery allergy showed specific IgE to mugwort and birch in 15 cases; sensitization to mugwort or birch alone only occurred in 5 and 7 cases, respectively. Positive RAST results were also obtained with several spices. We found a relationship between spice and celery allergy.

  10. Long-Term Results of the Diagnostic Tests for Subacromial Impingement Syndrome

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    Bayram Kelle

    2015-12-01

    Results: There were no significant differences for demographic data between groups. The all tests in both group were found mostly positive. It was seen significant change at the third months after treatment. Conclusions: The specific tests were important fort he diagnosis of SIS, furthermore they can demonstrate the efficacy of treatments. The combinad application of these tests are more important for the diagnosis and follow-up of SIS. [Cukurova Med J 2015; 40(4.000: 794-799

  11. Pseudotumor Cerebri Resulting in Empty Sella Syndrome and Multiple Pituitary Hormone Deficiencies

    Science.gov (United States)

    2017-09-14

    A 17 year old male was referred to pediatric endocrinology with concerns for stalled puberty in the setting of known PTC. He was diagnosed with PTC... headaches and back pain requiring pain specialty management with prolonged opiate and lidocaine patch use. He had decreased energy, poor stamina...size led to a preliminary laboratory evaluation. This resulted In a referral to pediatric endocrinology for significantly low testosterone and an

  12. DRESS syndrome with fatal results induced by sodium valproate in a patient with brucellosis and a positive cytoplasmic antineutrophilic cytoplasmic antibody test result.

    Science.gov (United States)

    Albayrak, Fatih; Cerrah, Serkan; Albayrak, Ayse; Dursun, Hakan; Yildirim, Rahsan; Uyanik, Abdullah

    2012-07-01

    DRESS syndrome is a life-threatening adverse reaction characterized by skin rashes, fever, leukocytosis with eosinophilia or atypical lymphocytosis, lymph node enlargement, and liver or renal dysfunctions. DRESS syndrome related to valproic acid use is very rarely observed. We present a case of DRESS syndrome induced by sodium valproate, which developed and progressed fatally in a brucellosis patient with a positive c-ANCA test. A 19-year-old female patient presented with fever, cough, jaundice, and rash all over her body. Brucella Coombs test was positive at 1:1280 titers, and the Rose Bengal test was also positive. The involuntary movements were thought to be due to chorea, and the patient was started on sodium valproate 500 mg 2 1, as well as streptomycin 1 g flk 1 1 and tetradox capsules 2 1 for the brucellosis and was discharged. DRESS syndrome was suspected in the patient, and she was taken off sodium valproate and tetradox; N-acetylcysteine, ceftriaxon, prednizolone, and support treatment were started. When sodium valproate is used on its own, it carries no risk of inducing DRESS syndrome. However, in the case presented, another co-morbidity such as brucellosis and c-ANCA positivity was present. We believe that the presence of further co morbidity not yet reported in literature is important from the perspective of the risk of valproate-induced DRESS syndrome. Therefore, if sodium valproate treatment is to be started in patients, especially those with co morbidity, they must be closely monitored with clinical and laboratory observations. At the slightest suspicion of DRESS syndrome, all medication should be ceased immediately and the patient should be placed under continuous observation.

  13. Chronic fatigue syndrome associated with a psychotic state resulting in multiple murders.

    Science.gov (United States)

    Ghahramani, M; Gooriah, V

    1995-01-01

    A 28-year-old, ambitious, academically successful Asian man with a zeal for hard work develops infectious mononucleosis and its resultant lethargy and fatigue. He becomes depressed, then develops symptoms of mania before turning floridly psychotic. In his psychotic state he develops grandiose delusions about being the second son of God after Christ and takes it upon himself to rid the world of all evil by defeating the anti-Christ. He kills four people and seriously injures a fifth. He is arrested and found not guilty by reason of insanity. He remains a diagnostic puzzle for a long time before starting to respond to neuroleptic medication.

  14. Treacher Collins syndrome may result from insertions, deletions or splicing mutations, which introduce a termination codon into the gene

    NARCIS (Netherlands)

    Gladwin, A. J.; Dixon, J.; Loftus, S. K.; Edwards, S.; Wasmuth, J. J.; Hennekam, R. C.; Dixon, M. J.

    1996-01-01

    Treacher Collins syndrome is an autosomal dominant disorder of craniofacial development the features of which include conductive hearing loss and cleft palate. Recently, the Treacher Collins syndrome gene (TCOF1) has been positionally cloned and a series of five mutations within the coding sequence

  15. Pain syndromes in hemiplegic patients and their effects on rehabilitation results.

    Science.gov (United States)

    Caglar, Nil Sayiner; Akin, Turkan; Aytekin, Ebru; Komut, Ece Akyol; Ustabasioglu, Fatma; Okur, SibelCaglar; Dogan, YaseminPekin; Erdem, Halil İbrahim; Ataoglu, Emine; Yalcinkaya, EbruYilmaz

    2016-03-01

    [Purpose] The aim of this study was to determine the frequency, type, and location of pain in hemiplegic patients and the effects on rehabilitation results in our inpatient rehabilitation unit. [Subjects and Methods] Patients rehabilitated between January 2010 and July 2012 were investigated retrospectively. Properties of pain were recorded. Pre- and post-rehabilitation motor evaluation and achievement in daily activities were considered, and differences in scores between groups classified as with and without pain were examined. [Results] The number of patients included in the study was 156. The mean age was 64.28 ± 12.45 years, the mean disease duration was 11.10 months, and the gender distribution was 75 males (48%) and 81 females (52%). Fortysix (29.5%) patients had pain complaints. The nociceptive pain ratio was 86.7%, and the neuropathic pain ratio was 13.3%. Pain was mostly localized at the shoulder joint, with the proportion being 86.9%. In the pain group, statistically significant improvement was found in pain scores after the treatment. There was no significant difference between groups in the pre- and post-rehabilitation Brunnstrom motor evaluation and functional independence measurement scores. [Conclusion] Nociceptive pain is more common than neuropathic pain in patients with hemiplegia, and the shoulder joint is the most frequent location of nociceptive pain.

  16. Retrospective analysis distant results of surgical treatment children with acute scrotum syndrom

    Directory of Open Access Journals (Sweden)

    Kens K.A.

    2016-03-01

    Full Text Available In adulthood examined 440 patients treated with acute testicular diseases (ATD - injury of testicular appendages and the epididymis, testicular torsion, trauma of the scrotum and acute orchiepididymitis. Allocated 2 groups depending on the time of surgery. The first group 157 patients were operated up to 24 hours from the moment disease begin and the second group, 283 patients were operated after 24 hours. To determine the status of the testes and epididymis were used: palpation of the scrotum, Doppler ultrasonography, hormonal studies, diagnostics of ejaculate. In the analysis of long-term results of surgical treatment ATD revealed a high percentage of the different abnormalities in development of the reproductive system — 20%.

  17. Tissue Doppler echocardiographic quantification. Comparison to coronary angiography results in Acute Coronary Syndrome patients

    Directory of Open Access Journals (Sweden)

    Allal Joseph

    2005-04-01

    Full Text Available Abstract Background Multiples indices have been described using tissue Doppler imaging (DTI capabilities. The aim of this study was to assess the capability of one or several regional DTI parameters in separating control from ischemic myocardium. Methods Twenty-eight patients with acute myocardial infarction were imaged within 24-hour following an emergent coronary angioplasty. Seventeen controls without any coronary artery or myocardial disease were also explored. Global and regional left ventricular functions were assessed. High frame rate color DTI cineloop recordings were made in apical 4 and 2-chamber for subsequent analysis. Peak velocity during isovolumic contraction time (IVC, ejection time, isovolumic relaxation (IVR and filling time were measured at the mitral annulus and the basal, mid and apical segments of each of the walls studied as well as peak systolic displacement and peak of strain. Results DTI-analysis enabled us to discriminate between the 3 populations (controls, inferior and anterior AMI. Even in non-ischemic segments, velocities and displacements were reduced in the 2 AMI populations. Peak systolic displacement was the best parameter to discriminate controls from AMI groups (wall by wall, p was systematically Conclusion DTI-analysis appears to be valuable in ischemic heart disease assessment. Its clinical impact remains to be established. However this simple index might really help in intensive care unit routine practice.

  18. Malfunction of nuclease ERCC1-XPF results in diverse clinical manifestations and causes Cockayne syndrome, xeroderma pigmentosum, and Fanconi anemia.

    Science.gov (United States)

    Kashiyama, Kazuya; Nakazawa, Yuka; Pilz, Daniela T; Guo, Chaowan; Shimada, Mayuko; Sasaki, Kensaku; Fawcett, Heather; Wing, Jonathan F; Lewin, Susan O; Carr, Lucinda; Li, Tao-Sheng; Yoshiura, Koh-ichiro; Utani, Atsushi; Hirano, Akiyoshi; Yamashita, Shunichi; Greenblatt, Danielle; Nardo, Tiziana; Stefanini, Miria; McGibbon, David; Sarkany, Robert; Fassihi, Hiva; Takahashi, Yoshito; Nagayama, Yuji; Mitsutake, Norisato; Lehmann, Alan R; Ogi, Tomoo

    2013-05-02

    Cockayne syndrome (CS) is a genetic disorder characterized by developmental abnormalities and photodermatosis resulting from the lack of transcription-coupled nucleotide excision repair, which is responsible for the removal of photodamage from actively transcribed genes. To date, all identified causative mutations for CS have been in the two known CS-associated genes, ERCC8 (CSA) and ERCC6 (CSB). For the rare combined xeroderma pigmentosum (XP) and CS phenotype, all identified mutations are in three of the XP-associated genes, ERCC3 (XPB), ERCC2 (XPD), and ERCC5 (XPG). In a previous report, we identified several CS cases who did not have mutations in any of these genes. In this paper, we describe three CS individuals deficient in ERCC1 or ERCC4 (XPF). Remarkably, one of these individuals with XP complementation group F (XP-F) had clinical features of three different DNA-repair disorders--CS, XP, and Fanconi anemia (FA). Our results, together with those from Bogliolo et al., who describe XPF alterations resulting in FA alone, indicate a multifunctional role for XPF. Copyright © 2013 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.

  19. Partial tetrasomy of chromosome 22q11.1 resulting from a supernumerary isodicentric marker chromosome in a boy with cat-eye syndrome.

    Science.gov (United States)

    Ko, Jung Min; Kim, Jun Bum; Pai, Ki Soo; Yun, Jun-No; Park, Sang-Jin

    2010-12-01

    The 22q11 region has been implicated in chromosomal rearrangements that result in altered gene dosage, leading to three different congenital malformation syndromes: DiGeorge syndrome, cat-eye syndrome (CES), and der(22) syndrome. Although DiGeorge syndrome is a common genomic disorder on 22q11, CES is quite rare, and there has been no report of Korean CES cases with molecular cytogenetic confirmation. In this study, we present the phenotypic and genetic characteristics of a 3-month-old boy with CES. Clinical findings included micropthalmia, multiple colobomata, and renal and genital anomalies. Cytogenetic analyses showed the presence of a supernumerary marker chromosome, which was identified as a bisatellited and isodicentric chromosome derived from an acrocentric chromosome. The results of array comparative genomic hybridization and fluorescence in situ hybridization studies confirmed the karyotype as 47,XY,+mar.ish idic(22)(q11.1) (D22S43+).arr 22q11.1(15,500,000-15,900,000)x4, resulting in a partial tetrasomy of 22q11.1. To the best of our knowledge, this is the first report in Korea of CES confirmed by cytogenetic and molecular cytogenetic analyses.

  20. Cost-effectiveness of internet-based cognitive behavior therapy for irritable bowel syndrome: results from a randomized controlled trial

    Directory of Open Access Journals (Sweden)

    Paxling Björn

    2011-04-01

    Full Text Available Abstract Background Irritable Bowel Syndrome (IBS is highly prevalent and is associated with a substantial economic burden. Cognitive behavior therapy (CBT has been shown to be effective in treating IBS. The aim of this study was to evaluate the cost-effectiveness of a new treatment alternative, internet-delivered CBT based on exposure and mindfulness exercises. Methods Participants (N = 85 with IBS were recruited through self-referral and were assessed via a telephone interview and self-report measures on the internet. Participants were randomized to internet-delivered CBT or to a discussion forum. Economic data was assessed at pre-, post- and at 3-month and 1 year follow-up. Results Significant cost reductions were found for the treatment group at $16,806 per successfully treated case. The cost reductions were mainly driven by reduced work loss in the treatment group. Results were sustained at 3-month and 1 year follow-up. Conclusions Internet-delivered CBT appears to generate health gains in IBS treatment and is associated with cost-savings from a societal perspective.

  1. [Subgroup analysis results of platelet inhibition trial in acute coronary syndrome patients (PLATO) who underwent intervention or medical treatment].

    Science.gov (United States)

    Aksakal, Enbiya

    2013-04-01

    Antiplatelet agents are among the most important drug classes in reducing mortality in patients with acute coronary syndromes (ACS). Ticagrelor is the first reversible and direct acting P2Y(12) receptor inhibitor with an earlier onset of action compared to clopidogrel. The PLATO study (Platelet Inhibition and Patient Outcomes) with ticagrelor was conducted with a design providing consistency with the current clinical practice, including all forms of ACS and a wide spectrum of treatment options in 18624 patients from 862 centers in 43 countries. Of these patients, 13408 underwent interventional procedures (ticagrelor/clopidogrel; 6732/6676) (PLATO-INVASIVE). As reported by the investigator, non-invasive treatment strategy was planned for 5216 patients (ticagrelor/clopidogrel; 2601/2615). However, 2040 patients in this group received interventional treatment during the follow-up (PLATO-NON-INVASIVE/MEDICAL TREATMENT). 1261 patients requiring surgical treatment underwent coronary artery bypass grafting (CABG) within 7 days after the discontinuation of study treatment (ticagrelor/clopidogrel; 632/629) (PLATO-CABG). The results of these three subgroups were consistent with the main PLATO study results, demonstrating that ticagrelor reduced the primary (cardiovascular death, myocardial Infarction and stroke) and secondary composite endpoints without increasing bleeding compared with clopidogrel. Ticagrelor fulfills an important unmet need regarding antiplatelet effectiveness in patients with ACS. This review evaluates the INVASIVE and MEDICAL subgroup studies of the PLATO study.

  2. Orchidopexy in children with Prader-Willi syndrome: Results of a long-term follow-up study.

    Science.gov (United States)

    Pacilli, Maurizio; Heloury, Yves; O'Brien, Mike; Lionti, Tess; Rowell, Margaret; Hutson, John

    2017-10-16

    Prader-Willi syndrome (PWS) is a rare (1:20.000) genetic condition affecting both males and females. Among other features, in boys, the syndrome is characterized by cryptorchidism in 86-100% of cases, hypogonadism, delayed puberty and infertility. The aim of the present study is to appraise the results of orchidopexy in this selected population of children. A follow-up study of children with PWS treated for undescended testes at a single institution over a 20-year period was performed. Patients were identified from a National PWS registry and reviewed at a special follow-up clinic. Data were collected from electronic and hard copies records and reported as median (range). Thirty-three children (1-17 years) were identified. Co-morbidities were present in 22 (66%) and 15 (45%) were on growth-hormone therapy. Six patients (19%) had normal testes palpable in the scrotum; twenty-seven (81%) had undescended testes and required orchidopexy. Thirteen (48%) underwent a bilateral procedure for a total of 40 procedures. A 2-stage Fowler-Stephens orchidopexy was required in 2 (7%) testes. At surgery hypotrophic testes were documented in 6 (22%) patients. Age at orchidopexy was 1.4 years (0.5-5.5). Age at FU was 7.2 years (1.7-17). Length of follow-up is 3.5 years (0.4-14). At follow-up 16 (40%) testes were of normal size and palpable in the scrotum; 7 (17.5%) testes required redo-orchidopexy. All patients (6/33) over 16 years of age that had testosterone levels tested had values below normal limits after successful orchidopexy. This study evaluates the results of orchidopexy in a large population of children with PWS. At follow-up, only 40% of testes were of normal size and in the scrotum. This information should be taken into consideration for patients' management and pre-operative parents' counseling. Copyright © 2017 Journal of Pediatric Urology Company. Published by Elsevier Ltd. All rights reserved.

  3. Transgene silencing of the Hutchinson-Gilford progeria syndrome mutation results in a reversible bone phenotype, whereas resveratrol treatment does not show overall beneficial effects

    DEFF Research Database (Denmark)

    Strandgren, Charlotte; Nasser, Hasina Abdul; McKenna, Tomás

    2015-01-01

    Hutchinson-Gilford progeria syndrome (HGPS) is a rare premature aging disorder that is most commonly caused by a de novo point mutation in exon 11 of the LMNA gene, c.1824C>T, which results in an increased production of a truncated form of lamin A known as progerin. In this study, we used a mouse...... progerin splicing give hope to patients who are affected by HGPS.-Strandgren, C., Nasser, H. A., McKenna, T., Koskela, A., Tuukkanen, J., Ohlsson, C., Rozell, B., Eriksson, M. Transgene silencing of the Hutchinson-Gilford progeria syndrome mutation results in a reversible bone phenotype, whereas...

  4. Limited impact on self-concept in individuals with Lynch syndrome; results from a national cohort study

    DEFF Research Database (Denmark)

    Petersen, Helle Vendel; Esplen, Mary Jane; Ladelund, Steen

    2011-01-01

    An increasing number of individuals seek genetic counseling and hereby learn about hereditary cancer in the family. Lynch syndrome is associated with an inherited high risk for colorectal and gynecological cancer, but knowledge about how family members at risk perceive their situation is limited....... We used the national Danish HNPCC register to collect data on self-concept from 413 individuals with Lynch syndrome. The recently developed Lynch syndrome self-concept scale contains 20 items within two subscales related to stigma-vulnerability and bowel symptom-related anxiety. Significantly higher...... more often reported by women (odds ratio 1.8) and by individuals with less education (OR 1.8). This study provides the first extended use of the Lynch syndrome self-concept scale and suggests that the majority of the Danish mutation carriers adapt well to the situation, though knowledge about...

  5. Surgery results in complete cure of Lambert-Eaton myasthenic syndrome in a patient with metastatic Merkel cell carcinoma.

    Science.gov (United States)

    Siau, Richard T K; Morris, Andrew; Karoo, Richard O S

    2014-06-01

    Lambert-Eaton myasthenic syndrome is a paraneoplastic phenomenon associated with neuroendocrine tumours, most frequently small cell lung carcinoma. Merkel cell carcinoma is a rare cause of Lambert-Eaton myasthenic syndrome. A 70-year old gentleman was referred with metastatic axillary nodal disease from a previously resected Merkel cell carcinoma of the left arm. Pre-operatively, the patient was wheelchair-bound from Lambert-Eaton myasthenic syndrome. Level I-III left axillary node clearance was performed and within 6 months, he had experienced full recovery of muscle power and mobility. We describe a case of complete cure of Lambert-Eaton myasthenic syndrome following axillary nodal clearance in a patient with metastatic Merkel cell carcinoma. Copyright © 2014 British Association of Plastic, Reconstructive and Aesthetic Surgeons. Published by Elsevier Ltd. All rights reserved.

  6. Inefficacy of infliximab in primary Sjögren's syndrome: results of the randomized, controlled Trial of Remicade in Primary Sjögren's Syndrome (TRIPSS).

    Science.gov (United States)

    Mariette, Xavier; Ravaud, Philippe; Steinfeld, Serge; Baron, Gabriel; Goetz, Joelle; Hachulla, Eric; Combe, Bernard; Puéchal, Xavier; Pennec, Yvon; Sauvezie, Bernard; Perdriger, Aleth; Hayem, Gilles; Janin, Anne; Sibilia, Jean

    2004-04-01

    There is no effective treatment for patients with primary Sjögren's syndrome (SS). Since tumor necrosis factor alpha (TNF alpha) could be a key element in the pathogenesis of primary SS, we conducted a multicenter, randomized, double-blind, placebo-controlled trial to evaluate the effect of infliximab in primary SS. A total of 103 patients with primary SS were randomly assigned to receive infliximab infusions (5 mg/kg) or placebo at weeks 0, 2, and 6 and were followed up for 22 weeks. All patients fulfilled the new American-European Consensus Group criteria for SS and had active disease as assessed by values >50 mm on 2 of 3 visual analog scales (VAS) (0-100 mm) that evaluated joint pain, fatigue, and buccal, ocular, skin, vaginal, or bronchial dryness. A favorable overall response was defined as the patient having > or =30% improvement between weeks 0 and 10 in the values on 2 of the 3 VAS. Secondary end points were values on each VAS separately, the number of tender and swollen joints, the basal salivary flow rate, results of the Schirmer test for lacrimal gland function, the focus score on labial salivary gland biopsy, the level of C-reactive protein, and the erythrocyte sedimentation rate evaluated at weeks 0, 10, and 22, as well as quality of life evaluated by use of the generic Short Form 36 questionnaire administered at weeks 0, 10, and 22. At week 10, 26.5% of patients receiving placebo and 27.8% of patients treated with infliximab had a favorable overall response (P = 0.89), and at week 22, 20.4% of the placebo group and 16.7% of the infliximab group had a favorable response (P = 0.62). In addition, the 2 groups did not differ in any of the secondary end points over the 22 weeks of the trial. Severe adverse events reported in the infliximab group did not differ from those observed in previous studies. This randomized, double-blind, placebo-controlled study of an anti-TNF agent did not show any evidence of efficacy of infliximab in primary SS.

  7. Associations Between Geriatric Syndromes and Mortality in Community-Dwelling Elderly: Results of a National Longitudinal Study in Taiwan.

    Science.gov (United States)

    Huang, Chi-Chang; Lee, Jenq-Daw; Yang, Deng-Chi; Shih, Hsin-I; Sun, Chien-Yao; Chang, Chia-Ming

    2017-03-01

    Although geriatric syndromes have been studied extensively, their interactions with one another and their accumulated effects on life expectancy are less frequently discussed. This study examined whether geriatric syndromes and their cumulative effects are associated with risks of mortality in community-dwelling older adults. Data were collected from the Taiwan Longitudinal Study in Aging in 2003, and the participant survival status was followed until December 31, 2007. A total of 2744 participants aged ≥65 years were included in this retrospective cohort study; 634 died during follow-up. Demographic factors, comorbidities, health behaviors, and geriatric syndromes, including underweight, falls, functional impairment, depressive condition, and cognitive impairment, were assessed. Cox proportional hazard regression analysis was used to estimate the hazard ratios (HRs) and 95% confidence intervals (CIs) for the probability of survival according to the cumulative number of geriatric syndromes. The prevalence of geriatric syndromes increased with age. Mortality was significantly associated with age ≥75 years; male sex; ≤6 years of education; history of stroke, malignancy; smoking; not drinking alcohol; and not exercising regularly. Geriatric syndromes, such as underweight, functional disability, and depressive condition, contributed to the risk of mortality. The accumulative model of geriatric syndromes also predicted higher risks of mortality (N = 1, HR 1.50, 95% CI 1.19-1.89; N = 2, HR 1.69, 95% CI 1.25-2.29; N ≥ 3, HR 2.43, 95% CI 1.62-3.66). Community-dwelling older adults who were male, illiterate, receiving institutional care, underweight, experiencing a depressive condition, functionally impaired, and engaging in poor health behavior were more likely to have a higher risk of mortality. The identification of geriatric syndromes might help to improve comprehensive care for community-dwelling older adults. Copyright © 2016 AMDA – The Society for

  8. Associations between sleep disturbances and diabetes mellitus among blacks with metabolic syndrome: Results from the Metabolic Syndrome Outcome Study (MetSO).

    Science.gov (United States)

    Ramos, Alberto R; Wallace, Douglas M; Pandi-Perumal, Seithikurippu Ratnas; Williams, Natasha J; Castor, Chimene; Sevick, Mary Ann; Mcfarlane, Samy I; Jean-Louis, Girardin

    2015-05-01

    The association between sleep disturbances and cardiometabolic diseases has been understudied in blacks with metabolic syndrome. This study is a cross-sectional analysis of the Metabolic Syndrome Outcome Study (MetSO) trial. We assessed insomnia symptoms, sleep duration, and risk for sleep apnea. Multivariate logistic regression models evaluated the association between sleep disturbances with diabetes mellitus (DM) and the combined outcomes of DM and hypertension as well as DM and dyslipidemia. The sample consisted of 1,013 participants, mean age of 62 ± 14 years and 61% female. DM was diagnosed in 60% of the sample. Sleep apnea risk was observed in 48% of the sample, while 10% had insomnia symptoms and 65% reported short sleep duration (alcohol use, hypertension, dyslipidemia, and depression. In fully adjusted models, sleep apnea risk was associated with the combined outcome of DM-hypertension (OR 1.95; 95% CI 1.42-2.69), but not with diabetes-dyslipidemia. We observed a strong association between sleep apnea risk and diabetes mellitus among blacks with metabolic syndrome.

  9. Benign painful shoulder syndrome. Initial results of a single-center prospective randomized radiotherapy dose-optimization trial

    Energy Technology Data Exchange (ETDEWEB)

    Ott, O.J.; Hertel, S.; Gaipl, U.S.; Frey, B.; Schmidt, M.; Fietkau, R. [University Hospital Erlangen (Germany). Department of Radiation Oncology

    2012-12-15

    Background and purpose: To compare the efficacy of two different dose-fractionation schedules for radiotherapy of patients with benign painful shoulder syndrome. Patients and methods: Between February 2006 and February 2010, 312 consecutive evaluable patients were recruited for this prospective randomized trial. All patients received radiotherapy with an orthovoltage technique. One radiotherapy course consisted of 6 single fractions in 3 weeks. In case of insufficient remission of pain after 6 weeks, a second radiation series was performed. Patients were randomly assigned to receive either single doses of 0.5 or 1.0 Gy. The endpoint was pain reduction. Pain was measured before, right after, and 6 weeks after radiotherapy using a visual analogue scale (VAS) and a comprehensive pain score (CPS). Results: The overall response rate for all patients was 83% directly after and 85% 6 weeks after radiotherapy. The mean VAS values before, directly after, and 6 weeks after treatment for the 0.5 and 1.0 Gy groups were 56.8 {+-} 23.7 and 53.2 {+-} 21.8 (p = 0.158), 38.2 {+-} 26.1 and 34.0 {+-} 24.5 (p = 0.189), and 33.0 {+-} 27.2 and 23.7 {+-} 22.7 (p = 0.044), respectively. The mean CPS before, directly after, and 6 weeks after treatment was 9.7 {+-} 3.0 and 9.5 {+-} 2.7 (p = 0.309), 6.1 {+-} 3.6 and 5.4 {+-} 3.6 (p = 0.096), 5.3 {+-} 3.7 and 4.1 {+-} 3.7 (p = 0.052), respectively. Despite a slight advantage in the VAS analysis for the 1.0 Gy group for delayed response, the CPS analysis revealed no statistically significant differences between the two single-dose trial arms for early (p = 0.652) and delayed response quality (p = 0.380). Conclusion: Radiotherapy is an effective treatment option for the management of benign painful shoulder syndrome. Concerning radiation protection, the dose for a radiotherapy series is recommended not to exceed 3-6 Gy. (orig.)

  10. Classical Wolf-Hirschhorn Syndrome confirmed molecularly despite normal results using commercially available probes: Redefinition of critical region

    Energy Technology Data Exchange (ETDEWEB)

    Zackai, E.H.; McDonald-McGinn, D.M.; Spinner, N. [Children`s Hospital of Philadelphia, PA (United States)] [and others

    1994-09-01

    Wolf-Hirschhorn Syndrome, WHS, (4p-) is a clinically recognized entity where the deletion ranges from one half of the short arm of 4p to being subtle and cytogenetically undetectable. Because such variations do not result in significant differences in the WMS phenotype it has been suggested that them is a critical region involved in the distal portion of chromosome 4, within 4p16.3. This has been recently localized to a 2.5 Mb segment 100-300 kb from the telomere. A cosmid probe, pC847.351, that maps to distal 4p16.3 (locus D4F26) is commercially available for diagnostic use. We present a child with classical feature of Wolf-Hirschhorn Syndrome whose chromosome analyses, including high resolution banding, looking specifically at the 4p region, were normal, and in whom FISH using the commercially available cosmid probe for the 4p16.3 region did not demonstrate a deletion. Insistence on the clinician`s part that the child`s features were classic for WHS prompted further investigation. Four additional cosmid clones distal to the HD gene were tested by FISH on metaphase chromosomes from the proband. Cosmids representing the loci D4S95 and D4S43, which are {approximately}3.5 and 2.5 Mb, Respectively, proximal to D4F26 were present. However, cosmids for the loci D4S98 and FGFR3, which are within 100 kb of each other and {approximately}300 kb distal to D4S43 were deleted. This deletion is the smallest reported to date in a patient with typical WHS. Previous studies of patients both lacking the WHS phenotype and deleted using cosmid probe pC847.351 have suggested that the most distal region (150 kb) of 4p16.3 is not part of the WHS critical region. This is confirmed by our study. Estabrooks` report, together with our case, suggests redefinition of the WHS critical region proximal to D4F26 and distal to D4S43. We caution against ruling out WHS with the above probe since there may be other cases where the most distal region is intact.

  11. Sudden onset of cauda equina syndrome resulting from posterior migration of lumbar herniated disc without significant previous neurological signs.

    Science.gov (United States)

    Ju, Jeong-Hyuk; Kim, Hyun-Woo; Jung, Chul-Ku; Ha, Ho-Gyun

    2012-09-01

    While extruded disc fragments are known to migrate anteriorly, posteriorly, or laterally to the theca sac, posterior migration of the fragments is relatively rare and sudden onset of cauda equina syndrome (CES) caused by the migration is extremely rare. The authors experienced a case of CES that was manifested abruptly with sudden paraplegia caused by posterior migration of the lumbar intervertebral disc. A 74-year old man, who had no prior significant neurologic signs or trauma history, visited our emergency center with paraplegia of both lower extremities occurring suddenly when awakened. On magnetic resonance image (MRI) findings, we could detect ruptured disc herniation with severe lumbar stenosis at the L2-3 level. We performed an emergent decompression, and the right posterior migrated disc fragments at L2-3 were intraoperatively observed. The patient was fully recovered himself on the follow up after 3 months of the operation. In conclusion, early operation can result in better outcome in acute paraplegia caused by the posterior migrated disc fragments.

  12. [Painful bladder syndrome in interstitial cystitis: relation between symptoms, endoscopy and biopsia results and the treatment effects].

    Science.gov (United States)

    Zámecník, L; Hanus, T; Pavlík, I

    2007-01-01

    Interstitial cystitis/Painful Bladder Syndrome (IC) is a chronic abacterial inflammatory disease of the bladder wall. It is accompanied by predominant neuropathic pain. Typical symptoms of IC include: suprapubic pain, bladder pain even between voiding, urgency, short intervals between micturition with frequency and nocturia. The objective of the study was to find a correlation between a symptom score and endoscopy together with histopathologic findings from the detrusor biopsy and a correlation between symptoms before and after the intravesical treatment. We have evaluated a group of 30 patients with newly diagnosed IC prospectively. These patients were in the group 1. Control group 2 consisted of 10 patients with asymptomatic bacteriuria. Group 3 consisted of 15 patients with no voiding symptoms. Validated questionnaire (O'Leary-Sant Symptom (ICSI) and Problem Index (ICPI) was used to objectify subjective symptoms. The diagnosis of IC was based on the clinical assessment of subjective symptoms, urodynamic results, endoscopy and histology. The efficacy of therapy was found statistically significant only in the intravesical therapy. In the patients with immunohistochemically identified increased numbers of mast cells per one microscopic field, the correlation with ICSI and ICPI score was statistically significant. Differences in symptom score in the patients before and after the treatment were found significantly higher after the intravesical (with heparin) treatment then after peroral therapy. Significant differences in the correlations of ICSI and ICPI score values with the histopathologic finding (i.e. number of mast cells) were found.

  13. A paternal deletion of MKRN3, MAGEL2 and NDN does not result in Prader-Willi syndrome.

    Science.gov (United States)

    Kanber, Deniz; Giltay, Jacques; Wieczorek, Dagmar; Zogel, Corinna; Hochstenbach, Ron; Caliebe, Almuth; Kuechler, Alma; Horsthemke, Bernhard; Buiting, Karin

    2009-05-01

    The Prader-Willi syndrome (PWS) is caused by a 5-6 Mbp de novo deletion on the paternal chromosome 15, maternal uniparental disomy 15 or an imprinting defect. All three lesions lead to the lack of expression of imprinted genes that are active on the paternal chromosome only: MKRN3, MAGEL2, NDN, C15orf2, SNURF-SNRPN and more than 70 C/D box snoRNA genes (SNORDs). The contribution to PWS of any of these genes is unknown, because no single gene mutation has been described so far. We report on two patients with PWS who have an atypical deletion on the paternal chromosome that does not include MKRN3, MAGEL2 and NDN. In one of these patients, NDN has a normal DNA methylation pattern and is expressed. In another patient, the paternal alleles of these genes are deleted as the result of an unbalanced translocation 45,X,der(X)t(X;15)(q28;q11.2). This patient is obese and mentally retarded, but does not have PWS. We conclude that a deficiency of MKRN3, MAGEL2 and NDN is not sufficient to cause PWS.

  14. Association between Depressive Symptoms and Metabolic Syndrome in Police Officers: Results from Two Cross-Sectional Studies

    Directory of Open Access Journals (Sweden)

    Tara A. Hartley

    2012-01-01

    Full Text Available Policing is one of the most dangerous and stressful occupations and such stress can have deleterious effects on health. The purpose of this study was to examine the association between depressive symptoms and metabolic syndrome (MetSyn in male and female police officers from two study populations, Buffalo, NY and Spokane, WA. Depressive symptoms were measured using the Center for Epidemiologic Studies-Depression (CES-D scale. MetSyn was defined using the 2005 AHA/NHBLI guidelines. Analysis of covariance was used to describe differences in number of MetSyn components across depressive symptom categories. The number of MetSyn components increased significantly across categories of CES-D for Spokane men only (p-trend = 0.003. For each 5-unit increase in CES-D score, odds increased by 47.6% for having hypertriglyceridemia, by 51.8% for having hypertension, and by 56.7% for having glucose intolerance. Exploring this association is important since both are predictors of future chronic health problems and the results could be helpful in developing future gender-specific prevention and intervention efforts among police officers.

  15. [Prevalence and Comorbidity of Self-Reported Diagnosis of Burnout Syndrome in the General Population - Results of the German Health Interview and Examination Survey for Adults (DEGS1)].

    Science.gov (United States)

    Maske, Ulrike E; Riedel-Heller, Steffi G; Seiffert, Ingeburg; Jacobi, Frank; Hapke, Ulfert

    2016-01-01

    Objective: To determine the prevalence and comorbid mental disorders of self-reported diagnosis of burnout syndrome in the general population of Germany. Methods: In the German Health Interview and Examination Survey (DEGS1) self-reported diagnosis of a burnout syndrome made by a physician or psychotherapist was assessed in a standardized interview (N = 7987). For N = 4483 mental disorders were determined with the Composite International Diagnostic Interview (CIDI). Weighted lifetime and 12-month prevalences were calculated. Results: Lifetime prevalence of diagnosed burnout syndrome was 4.2 % (women 5.2 %, men 3.3 %), 12-month prevalence was 1.5 % (women 1.9 %, men 1.1 %). Highest prevalences were found in 40 - 59 year olds, in people with middle and high socio-economic status and in women with low and men with high social support. Among the 12-month cases, 70.9 % had at least one DSM-IV disorder. Associations were found for the diagnosis of burnout syndrome with somatoform, affective and anxiety disorders. Conclusion: The diagnosis of burnout syndrome is less frequently given and reported than expected. People with a burnout diagnosis often have a manifest mental disorder. © Georg Thieme Verlag KG Stuttgart · New York.

  16. Neonatal progeroid variant of Marfan syndrome with congenital lipodystrophy results from mutations at the 3' end of FBN1 gene.

    Science.gov (United States)

    Jacquinet, Adeline; Verloes, Alain; Callewaert, Bert; Coremans, Christine; Coucke, Paul; de Paepe, Anne; Kornak, Uwe; Lebrun, Frederic; Lombet, Jacques; Piérard, Gérald E; Robinson, Peter N; Symoens, Sofie; Van Maldergem, Lionel; Debray, François-Guillaume

    2014-04-01

    We report a 16-year-old girl with neonatal progeroid features and congenital lipodystrophy who was considered at birth as a possible variant of Wiedemann-Rautenstrauch syndrome. The emergence of additional clinical signs (marfanoid habitus, severe myopia and dilatation of the aortic bulb) lead to consider the diagnosis of the progeroid variant of Marfan syndrome. A de novo donor splice-site mutation (c.8226+1G>A) was identified in FBN1. We show that this mutation leads to exon 64 skipping and to the production of a stable mRNA that should allow synthesis of a truncated profibrillin-1, in which the C-terminal furin cleavage site is altered. FBN1 mutations associated with a similar phenotype have only been reported in four other patients. We confirm the correlation between marfanoid phenotype with congenital lipodystrophy and neonatal progeroid features (marfanoid-progeroid-lipodystrophy syndrome) and frameshift mutations at the 3' end of FBN1. This syndrome should be considered in differential diagnosis of neonatal progeroid syndromes. Copyright © 2014 Elsevier Masson SAS. All rights reserved.

  17. Effects of phlebotomy-induced reduction of body iron stores on metabolic syndrome: results from a randomized clinical trial

    Directory of Open Access Journals (Sweden)

    Houschyar Khosrow S

    2012-05-01

    Full Text Available Abstract Background Metabolic syndrome (METS is an increasingly prevalent but poorly understood clinical condition characterized by insulin resistance, glucose intolerance, dyslipidemia, hypertension, and obesity. Increased oxidative stress catalyzed by accumulation of iron in excess of physiologic requirements has been implicated in the pathogenesis of METS, but the relationships between cause and effect remain uncertain. We tested the hypothesis that phlebotomy-induced reduction of body iron stores would alter the clinical presentation of METS, using a randomized trial. Methods In a randomized, controlled, single-blind clinical trial, 64 patients with METS were randomly assigned to iron reduction by phlebotomy (n = 33 or to a control group (n = 31, which was offered phlebotomy at the end of the study (waiting-list design. The iron-reduction patients had 300 ml of blood removed at entry and between 250 and 500 ml removed after 4 weeks, depending on ferritin levels at study entry. Primary outcomes were change in systolic blood pressure (SBP and insulin sensitivity as measured by Homeostatic Model Assessment (HOMA index after 6 weeks. Secondary outcomes included HbA1c, plasma glucose, blood lipids, and heart rate (HR. Results SBP decreased from 148.5 ± 12.3 mmHg to 130.5 ± 11.8 mmHg in the phlebotomy group, and from 144.7 ± 14.4 mmHg to 143.8 ± 11.9 mmHg in the control group (difference -16.6 mmHg; 95% CI -20.7 to -12.5; P Conclusions In patients with METS, phlebotomy, with consecutive reduction of body iron stores, lowered BP and resulted in improvements in markers of cardiovascular risk and glycemic control. Blood donation may have beneficial effects for blood donors with METS. Trial registration ClinicalTrials.gov: NCT01328210 Please see related article: http://www.biomedcentral.com/1741-7015/10/53

  18. Retinal nerve fiber layer thickness changes in obstructive sleep apnea syndrome:one year follow-up results

    Directory of Open Access Journals (Sweden)

    Mehmet Ozgur Zengin

    2014-08-01

    Full Text Available AIM:To investigate the retinal nerve fiber layer (RNFL thickness changes in patients with obstructive sleep apnea syndrome (OSAS for one year follow-up. To discuss the possibility of detecting tendency of glaucoma in this population by using spectral domain optical coherence tomography (3D-OCT-2000 Spectral domain.METHODS:After polysomnographic study, all subjects (64 OSAS patients and 40 controls underwent detailed ophthalmological examination. After these examinations, patients with glaucoma and patients who had ophthalmological and/or systemic disease were excluded from the study. Totally, 20 patients in OSAS group and five patients in controls were excluded from the study in the first examination and follow-up period. The RNFL thickness was assessed with OCT. Forty-four OSAS patients and 35 control subjects were followed up 12mo. RNFL thickness change and OSAS patients were evaluated for severity of disease by Apnea-Hypopnea Index (AHI.RESULTS:Forty-four OSAS patients and 35 controls were enrolled in the study. Statistically significance was found between OSAS patients and controls at the 12th mo. Average RNFL thickness was found to be significantly lower in last measurements in OSAS patients when compared with first measurements and control subjects (P<0.001, 0.002, respectively. There was a statistically significant correlation among AHI, and RNFL thickness (P<0.05.CONCLUSION:The results suggest that the patients with OSAS were related with a proportional decrease in the RNFL thickness. These patients should be followed up regularly for glaucomatous changes. Detecting more RNFL thinning in severe OSAS was important.

  19. Radial Access Reduces Mortality in Patients With Acute Coronary Syndromes: Results From an Updated Trial Sequential Analysis of Randomized Trials.

    Science.gov (United States)

    Andò, Giuseppe; Capodanno, Davide

    2016-04-11

    The authors sought to investigate whether the cumulative evidence coming from randomized studies has reached the necessary power to consider radial access as a bleeding avoidance strategy that reduces mortality and ischemic endpoints in patients with acute coronary syndromes (ACS). Studies in ACS patients have reached conflicting conclusions about the impact of radial access in improving ischemic outcomes in addition to the established bleeding benefit. English-language publications and abstracts of major cardiovascular meetings until October 2015 were scrutinized. Study quality, patient characteristics, procedural data, and outcomes were extracted. Data were pooled in random effects meta-analyses with classic and trial sequential techniques. Trial sequential analysis combines the a priori information size calculation needed to allow for clinically meaningful statistical inference with the adjustment of thresholds for which results are considered significant. Seventeen studies, encompassing data from 19,328 patients, were pooled. Radial access was found to reduce mortality (relative risk [RR]: 0.73; 95% confidence interval [CI]: 0.60 to 0.88; p = 0.001), major adverse cardiovascular events (RR: 0.86; 95% CI: 0.77 to 0.95; p = 0.005), and major bleeding (RR: 0.60; 95% CI: 0.48 to 0.76; p < 0.001). Multiple sensitivity analyses showed consistent results, and trial sequential analysis suggested firm evidence for a meaningful reduction in mortality with radial access. Radial access reduces mortality compared with femoral access in ACS patients undergoing invasive management. This benefit is paralleled by consistent reductions in major adverse cardiovascular events and major bleeding, supporting radial access as the default strategy for cardiac catheterization in patients with ACS. Copyright © 2016 American College of Cardiology Foundation. Published by Elsevier Inc. All rights reserved.

  20. A comparison of dual vs. triple antiplatelet therapy in patients with non-ST-segment elevation acute coronary syndrome : results of the ELISA-2 trial

    NARCIS (Netherlands)

    Rasoul, S; Ottervanger, JP; de Boer, MJ; Miedema, Kor; Hoorntje, JCA; Gosselink, M; Zijlstra, F; Suryapranata, H; van 't Hof, AWJ; Dambrink, Jan Hendrik Everwijn

    Aims To compare dual vs. triple antiplatelet pre-treatment in patients with non-ST-elevation acute coronary syndrome (NSTE ACS) who were planned for early catheterization. Methods and results A total of 328 consecutive patients with NSTE ACS were included and were randomized to pre-treatment with

  1. A comparison of the impact of screen-positive results obtained from ultrasound and biochemical screening for Down syndrome in the first trimester : a pilot study

    NARCIS (Netherlands)

    Weinans, M.J.; Kooij, L.; Muller, M.A.; Bilardo, K.M.; van Lith, J.M.; Tymstra, T.

    2004-01-01

    OBJECTIVE: To compare the experiences of women who received a screen-positive test result for Down syndrome after nuchal translucency screening or after biochemical screening in the first trimester of pregnancy in the Netherlands. METHOD: Semi-quantitative questionnaires were sent to 40 women with a

  2. A comparison of the impact of screen-positive results obtained from ultrasound and biochemical screening for Down syndrome in the first trimester: a pilot study

    NARCIS (Netherlands)

    Weinans, Martin J. N.; Kooij, Loes; Müller, Moira A.; Bilardo, Katia M.; van Lith, Jan M. M.; Tymstra, Tjeerd

    2004-01-01

    Objective To compare the experiences of women who received a screen-positive test result for Down syndrome after nuchal translucency screening or after biochemical screening in the first trimester of pregnancy in the Netherlands. Method Semi-quantitative questionnaires were sent to 40 women with a

  3. Mood and Anxiety Disorders in Chronic Fatigue Syndrome, Fibromyalgia, and Irritable Bowel Syndrome: Results From the LifeLines Cohort Study.

    Science.gov (United States)

    Janssens, Karin A M; Zijlema, Wilma L; Joustra, Monica L; Rosmalen, Judith G M

    2015-05-01

    Functional somatic syndromes (FSSs) have often been linked to psychopathology. The aim of the current study was to compare prevalence rates of psychiatric disorders among individuals with chronic fatigue syndrome (CFS), fibromyalgia (FM), and irritable bowel syndrome (IBS). This study was conducted in 94,516 participants (mean [standard deviation] age = 44.6 [12.5] years, 58.7% women) of the general-population cohort LifeLines. FSSs were assessed by self-reports. Mood disorders (i.e., major depressive disorder and dysthymia) and anxiety disorders (i.e., generalized anxiety disorder, social phobia, panic disorder with/without agoraphobia, and agoraphobia) were assessed by means of the Mini International Neuropsychiatric Interview. Risks on psychiatric disorders were compared for individuals with CFS, FM, and IBS by using logistic regression analyses adjusted for age and sex. Prevalence rates of CFS, FM, and IBS were 1.3%, 3.0%, and 9.7%, respectively. Individuals with CFS, FM, and IBS had significantly more mood (odds ratios [ORs] = 1.72-5.42) and anxiety disorders (ORs = 1.52-3.96) than did individuals without FSSs, but prevalence rates were low (1.6%-28.6%). Individuals with CFS more often had mood (ORs = 2.00-4.08) and anxiety disorders (ORs = 1.63-2.32) than did individuals with FM and IBS. Major depressive disorder was more common in FM than in IBS (OR = 1.58, 95% confidence interval = 1.24-2.01), whereas these groups did not differ on dysthymia or anxiety disorders. Mood and anxiety disorders are more prevalent in individuals with FSSs, and particularly CFS, than in individuals without FSSs. However, most individuals with FSSs do not have mood or anxiety disorders.

  4. Cancer spectrum in DNA mismatch repair gene mutation carriers: results from a hospital based Lynch syndrome registry.

    Science.gov (United States)

    Pande, Mala; Wei, Chongjuan; Chen, Jinyun; Amos, Christopher I; Lynch, Patrick M; Lu, Karen H; Lucio, Laura A; Boyd-Rogers, Stephanie G; Bannon, Sarah A; Mork, Maureen E; Frazier, Marsha L

    2012-09-01

    The spectrum of cancers seen in a hospital based Lynch syndrome registry of mismatch repair gene mutation carriers was examined to determine the distribution of cancers and examine excess cancer risk. Overall there were 504 cancers recorded in 368 mutation carriers from 176 families. These included 236 (46.8 %) colorectal and 268 (53.2 %) extracolonic cancers. MLH1 mutation carriers had a higher frequency of colorectal cancers whereas MSH2, MSH6 and PMS2 mutation carriers had more extracolonic cancers although these differences were not statistically significant. Men had fewer extracolonic cancers than colorectal (45.3 vs. 54.7 %), whereas women had more extracolonic than colorectal cancers (59.0 vs. 41.0 %). The mean age at diagnosis overall for extracolonic cancers was older than for colorectal, 49.1 versus 44.8 years (P ≤ 0.001). As expected, the index cancer was colorectal in 58.1 % of patients and among the extracolonic index cancers, endometrial was the most common (13.8 %). A significant number of non-Lynch syndrome index cancers were recorded including breast (n = 5) prostate (n = 3), thyroid (n = 3), cervix (n = 3), melanoma (n = 3), and 1 case each of thymoma, sinus cavity, and adenocarcinoma of the lung. However, standardized incidence ratios calculated to assess excess cancer risk showed that only those cancers known to be associated with Lynch syndrome were significant in our sample. We found that Lynch syndrome patients can often present with cancers that are not considered part of Lynch syndrome. This has clinical relevance both for diagnosis of Lynch syndrome and surveillance for cancers of different sites during follow-up of these patients.

  5. Interactions between drugs and geriatric syndromes in nursing home and home care: results from Shelter and IBenC projects.

    Science.gov (United States)

    Onder, Graziano; Giovannini, Silvia; Sganga, Federica; Manes-Gravina, Ester; Topinkova, Eva; Finne-Soveri, Harriet; Garms-Homolová, Vjenka; Declercq, Anja; van der Roest, Henriëtte G; Jónsson, Pálmi V; van Hout, Hein; Bernabei, Roberto

    2018-01-16

    Drugs may interact with geriatric syndromes by playing a role in the continuation, recurrence or worsening of these conditions. Aim of this study is to assess the prevalence of interactions between drugs and three common geriatric syndromes (delirium, falls and urinary incontinence) among older adults in nursing home and home care in Europe. We performed a cross-sectional multicenter study among 4023 nursing home residents participating in the Services and Health for Elderly in Long-TERm care (Shelter) project and 1469 home care patients participating in the Identifying best practices for care-dependent elderly by Benchmarking Costs and outcomes of community care (IBenC) project. Exposure to interactions between drugs and geriatric syndromes was assessed by 2015 Beers criteria. 790/4023 (19.6%) residents in the Shelter Project and 179/1469 (12.2%) home care patients in the IBenC Project presented with one or more drug interactions with geriatric syndromes. In the Shelter project, 288/373 (77.2%) residents experiencing a fall, 429/659 (65.1%) presenting with delirium and 180/2765 (6.5%) with urinary incontinence were on one or more interacting drugs. In the IBenC project, 78/172 (45.3%) participants experiencing a fall, 80/182 (44.0%) presenting with delirium and 36/504 (7.1%) with urinary incontinence were on one or more interacting drugs. Drug-geriatric syndromes interactions are common in long-term care patients. Future studies and interventions aimed at improving pharmacological prescription in the long-term care setting should assess not only drug-drug and drug-disease interactions, but also interactions involving geriatric syndromes.

  6. Irregular eating of meals in adolescence and the metabolic syndrome in adulthood: results from a 27-year prospective cohort.

    Science.gov (United States)

    Wennberg, Maria; Gustafsson, Per E; Wennberg, Patrik; Hammarström, Anne

    2016-03-01

    The objective was to investigate whether irregular eating of meals in adolescence predicts the metabolic syndrome and its components in adulthood, and if any specific meal is of particular importance. Prospective cohort study with 27 years of follow-up. Information on meals (breakfast, school lunch and dinner with family), lifestyle (alcohol consumption, smoking habits, physical activity, consumption of sweets and pastries) at age 16 years was assessed from questionnaires, and presence or not of the metabolic syndrome and its components were defined at age 43 years in 889 participants (82·1% of total cohort). Logistic regression was used to calculate odds ratios and confidence intervals. The Northern Swedish Cohort; all school-leavers of the 9th grade in the town Luleå in 1981. Adolescents (age 16 years). Irregular eating of meals at age 16 years was associated with higher prevalence of the metabolic syndrome at age 43 years (OR=1·74; 95% CI 1·12, 2·71), but this was explained by concurrent unhealthy lifestyle at age 16 years. Poor breakfast at age 16 years was the only meal associated with the metabolic syndrome at age 43 years, independent of other meals, BMI (kg/m2) and lifestyle at age 16 years (OR=1·67; 95% CI 1·00, 2·80). Irregular eating of meals in adolescence predicted the metabolic syndrome in adulthood, but not independently of BMI and lifestyle in adolescence. Poor breakfast in adolescence was the only specific meal associated with future metabolic syndrome, even after adjustments. Breakfast eating should be encouraged in adolescence.

  7. Limited impact on self-concept in individuals with Lynch syndrome; results from a national cohort study

    DEFF Research Database (Denmark)

    Petersen, Helle Vendel; Esplen, Mary Jane; Ladelund, Steen

    2011-01-01

    . We used the national Danish HNPCC register to collect data on self-concept from 413 individuals with Lynch syndrome. The recently developed Lynch syndrome self-concept scale contains 20 items within two subscales related to stigma-vulnerability and bowel symptom-related anxiety. Significantly higher...... total scores, indicating a greater impact on self-concept, were reported by females and by individuals with experience from cancer in close relatives, whereas individuals with less formal education scored significantly higher on the stigma and vulnerability subscale. Scores in the upper quartile were...

  8. Treatment with rituximab in patients with mixed cryoglobulinemia syndrome: results of multicenter cohort study and review of the literature.

    Science.gov (United States)

    Ferri, C; Cacoub, P; Mazzaro, C; Roccatello, D; Scaini, P; Sebastiani, M; Tavoni, A; Zignego, A L; De Vita, S

    2011-11-01

    Mixed cryoglobulinemia syndrome (MCs) is a systemic vasculitis characterized by multiple organ involvement due to the vascular deposition of immune-complexes, mainly the cryoglobulins. B-lymphocyte expansion represents the underlying pathological alteration frequently triggered by hepatitis C virus (HCV) infection. The treatment of MCs syndrome is generally based on antiviral drugs and/or immunosuppressors, among which rituximab, an anti-CD20 monoclonal antibody, has been usefully employed for both cutaneous and visceral MCs organ involvement. This multicenter study retrospectively evaluated the effects of rituximab in a large series of patients with active MCs. The observed results were compared to those emerging from the updated review of the literature on this topic. The study included 87 patients (male/female 19/68, mean age 62.3±11.4SD years, mean disease duration 9±6.2SD years, HCV infection in 92% of cases) with active cryoglobulinemic vasculitis evaluated before rituximab monotherapy and after 6-month follow-up by means of main clinico-serological parameters. A PubMed search up to May 31, 2011, was done to find published clinical studies, including case reports of MCs treated with rituximab. A significant clinical improvement was observed in a relevant percentage of cases, regardless the presence/absence of associated HCV infection; namely, complete/partial remission of pre-treatment active manifestations was observed in 74% of skin purpuric lesions, up to 87% of non-healing vasculitic leg ulcers, and 44% of the peripheral neuropathy, mainly paresthesias (patient's visual analogical scale from 62±25 to 37±27; p≤.0001). Moreover, cryoglobulinemic nephropathy, observed in 38 patients, significantly improved in 95% of cases (serum creatinine from 1.8±1.1SD to 1.4±0.8SD mg/dl, p≤.0001; 24-hour proteinuria from 2.2±2.1SD to 0.9±1.7SD g/24h, p≤.0001), with complete remission in the 50%. Among 6 patients with complicating non-Hodgkin's B

  9. Oxygen Exposure Resulting in Arterial Oxygen Tensions Above the Protocol Goal Was Associated With Worse Clinical Outcomes in Acute Respiratory Distress Syndrome.

    Science.gov (United States)

    Aggarwal, Neil R; Brower, Roy G; Hager, David N; Thompson, B Taylor; Netzer, Giora; Shanholtz, Carl; Lagakos, Adrian; Checkley, William

    2017-12-19

    High fractions of inspired oxygen may augment lung damage to exacerbate lung injury in patients with acute respiratory distress syndrome. Participants enrolled in Acute Respiratory Distress Syndrome Network trials had a goal partial pressure of oxygen in arterial blood range of 55-80 mm Hg, yet the effect of oxygen exposure above this arterial oxygen tension range on clinical outcomes is unknown. We sought to determine if oxygen exposure that resulted in a partial pressure of oxygen in arterial blood above goal (> 80 mm Hg) was associated with worse outcomes in patients with acute respiratory distress syndrome. Longitudinal analysis of data collected in these trials. Ten clinical trials conducted at Acute Respiratory Distress Syndrome Network hospitals between 1996 and 2013. Critically ill patients with acute respiratory distress syndrome. None. We defined above goal oxygen exposure as the difference between the fraction of inspired oxygen and 0.5 whenever the fraction of inspired oxygen was above 0.5 and when the partial pressure of oxygen in arterial blood was above 80 mm Hg. We then summed above goal oxygen exposures in the first five days to calculate a cumulative above goal oxygen exposure. We determined the effect of a cumulative 5-day above goal oxygen exposure on mortality prior to discharge home at 90 days. Among 2,994 participants (mean age, 51.3 yr; 54% male) with a study-entry partial pressure of oxygen in arterial blood/fraction of inspired oxygen that met acute respiratory distress syndrome criteria, average cumulative above goal oxygen exposure was 0.24 fraction of inspired oxygen-days (interquartile range, 0-0.38). Participants with above goal oxygen exposure were more likely to die (adjusted interquartile range odds ratio, 1.20; 95% CI, 1.11-1.31) and have lower ventilator-free days (adjusted interquartile range mean difference of -0.83; 95% CI, -1.18 to -0.48) and lower hospital-free days (adjusted interquartile range mean difference of -1.38; 95

  10. First Global Consensus for Evidence-Based Management of the Hematopoietic Syndrome Resulting From Exposure to Ionizing Radiation

    Science.gov (United States)

    Dainiak, Nicholas; Gent, Robert Nicolas; Carr, Zhanat; Schneider, Rita; Bader, Judith; Buglova, Elena; Chao, Nelson; Norman Coleman, C.; Ganser, Arnold; Gorin, Claude; Hauer-Jensen, Martin; Andrew Huff, L.; Lillis-Hearne, Patricia; Maekawa, Kazuhiko; Nemhauser, Jeffrey; Powles, Ray; Schünemann, Holger; Shapiro, Alla; Stenke, Leif; Valverde, Nelson; Weinstock, David; White, Douglas; Albanese, Joseph; Meineke, Viktor

    2013-01-01

    Objective Hematopoietic syndrome (HS) is a clinical diagnosis assigned to people who present with ≥1 new-onset cytopenias in the setting of acute radiation exposure. The World Health Organization convened a panel of experts to evaluate the evidence and develop recommendations for medical countermeasures for the management of HS in a hypothetical scenario involving the hospitalization of 100 to 200 individuals exposed to radiation. The objective of this consultancy was to develop recommendations for treatment of the HS based upon the quality of evidence. Methods English-language articles were identified in MEDLINE and PubMed. Reference lists of retrieved articles were distributed to panel members before the meeting and updated during the meeting. Published case series and case reports of individuals with HS, published randomized controlled trials of relevant interventions used to treat nonirradiated individuals, reports of studies in irradiated animals, and prior recommendations of subject matter experts were selected. Studies were extracted using the Grading of Recommendations Assessment Development and Evaluation (GRADE) system. In cases in which data were limited or incomplete, a narrative review of the observations was made. No randomized controlled trials of medical countermeasures have been completed for individuals with radiation-associated HS. The use of GRADE analysis of countermeasures for injury to hematopoietic tissue was restricted by the lack of comparator groups in humans. Reliance on data generated in nonirradiated humans and experimental animals was necessary. Results Based upon GRADE analysis and narrative review, a strong recommendation was made for the administration of granulocyte colony-stimulating factor or granulocyte macrophage colony-stimulating factor and a weak recommendation was made for the use of erythropoiesis-stimulating agents or hematopoietic stem cell transplantation. Conclusions Assessment of therapeutic interventions for HS in

  11. Abnormal Resting-State Functional Connectivity in Patients with Chronic Fatigue Syndrome: Results of Seed and Data-Driven Analyses.

    Science.gov (United States)

    Gay, Charles W; Robinson, Michael E; Lai, Song; O'Shea, Andrew; Craggs, Jason G; Price, Donald D; Staud, Roland

    2016-02-01

    Although altered resting-state functional connectivity (FC) is a characteristic of many chronic pain conditions, it has not yet been evaluated in patients with chronic fatigue. Our objective was to investigate the association between fatigue and altered resting-state FC in myalgic encephalomyelitis/chronic fatigue syndrome (ME/CFS). Thirty-six female subjects, 19 ME/CFS and 17 healthy controls, completed a fatigue inventory before undergoing functional magnetic resonance imaging. Two methods, (1) data driven and (2) model based, were used to estimate and compare the intraregional FC between both groups during the resting state (RS). The first approach using independent component analysis was applied to investigate five RS networks: the default mode network, salience network (SN), left frontoparietal networks (LFPN) and right frontoparietal networks, and the sensory motor network (SMN). The second approach used a priori selected seed regions demonstrating abnormal regional cerebral blood flow (rCBF) in ME/CFS patients at rest. In ME/CFS patients, Method-1 identified decreased intrinsic connectivity among regions within the LFPN. Furthermore, the FC of the left anterior midcingulate with the SMN and the connectivity of the left posterior cingulate cortex with the SN were significantly decreased. For Method-2, five distinct clusters within the right parahippocampus and occipital lobes, demonstrating significant rCBF reductions in ME/CFS patients, were used as seeds. The parahippocampal seed and three occipital lobe seeds showed altered FC with other brain regions. The degree of abnormal connectivity correlated with the level of self-reported fatigue. Our results confirm altered RS FC in patients with ME/CFS, which was significantly correlated with the severity of their chronic fatigue.

  12. T-wave axis deviation, metabolic syndrome and cardiovascular risk: results from the MOLI-SANI study.

    Science.gov (United States)

    Assanelli, Deodato; Rago, Livia; Salvetti, Massimo; Di Castelnuovo, Augusto; Badilini, Fabio; Vaglio, Martino; Zito, Francesco; Donati, Maria Benedetta; de Gaetano, Giovanni; Iacoviello, Licia

    2012-01-01

    Early recognition of patients at increased cardiovascular risk is a major challenge. The surface electrocardiogram provides a useful platform and it has been used to propose several indexes. T wave axis abnormality is associated with an increased risk of cardiovascular mortality, independently of other risk factors and can be associated with the presence of the metabolic syndrome (MetS). We assessed the prevalence of T axis abnormalities and its relationship with MetS and its components in a large population of Italian adults. Data concerning 11,143 women (54 ± 11 years) and 9742 men (55 ± 11 years) randomly recruited from a general population (Moli-sani cohort) were analyzed. After excluding subjects with incomplete data and with history of cardiac disease or left ventricular hypertrophy, T-wave axis was normal in 74.5% of men and 80.9% of women, borderline in 23.6% and 17.3% and abnormal in 1.9% and 1.8%. In subjects with MetS, the prevalence of borderline or abnormal T-wave axis deviation was higher than in subjects without MetS (in men: 26.6% vs. 22.1% and 2.5% vs. 1.7%; in women: 25% vs. 15% and 2.4% vs. 1.6%, respectively for borderline and abnormal levels, paxis deviation by 1.21 in men and 1.31 in women. T wave axis deviation is associated with MetS and its individual components. These findings confirm previous reported results, expanding them to a large and representative sample of European population of Caucasian ethnicity. Copyright © 2012 Elsevier Inc. All rights reserved.

  13. Cost-effectiveness of treating acute coronary syndrome patients with ticagrelor for 12 months: results from the PLATO study.

    Science.gov (United States)

    Nikolic, Elisabet; Janzon, Magnus; Hauch, Ole; Wallentin, Lars; Henriksson, Martin

    2013-01-01

    The efficacy and safety of ticagrelor vs. clopidogrel in patients with acute coronary syndromes (ACS) are well documented in the PLATelet inhibition and patient Outcomes trial (PLATO). The aim of this study was to assess the long-term cost-effectiveness of treating ACS patients for 12 months with ticagrelor compared with generic clopidogrel. Event rates, health-care costs, and health-related quality of life during 12 months of therapy with either ticagrelor or generic clopidogrel were estimated from PLATO. Beyond 12 months, quality-adjusted survival and costs were estimated conditional on whether a non-fatal myocardial infarction (MI), a non-fatal stroke, or no MI or stroke occurred during the 12 months of therapy. Lifetime costs, life expectancy, and quality-adjusted life years (QALYs) were estimated for both treatment strategies. Incremental cost-effectiveness ratios were presented from a health-care perspective in 2010 Euros (€) applying unit costs and life tables from a Swedish setting in the base-case analysis. Treatment with ticagrelor was associated with increased health-care costs of €362 and a QALY gain of 0.13 compared with generic clopidogrel, yielding a cost per QALY gained with ticagrelor of €2753. The cost per life year gained was €2372. The results were consistent in major subgroups. Sensitivity analyses showed a cost per QALY gained with ticagrelor of ∼€7300 under certain scenarios. Based on clinical and health-economic evidence from the PLATO study, treating ACS patients with ticagrelor for 12 months is associated with a cost per QALY below generally accepted thresholds for cost-effectiveness. ClinicalTrials.gov Identifier: NCT00391872.

  14. Leisure time physical activity in middle age predicts the metabolic syndrome in old age: results of a 28-year follow-up of men in the Oslo study

    Directory of Open Access Journals (Sweden)

    Sogaard Anne

    2007-07-01

    Full Text Available Abstract Background Data are scarce on the long term relationship between leisure time physical activity, smoking and development of metabolic syndrome and diabetes. We wanted to investigate the relationship between leisure time physical activity and smoking measured in middle age and the occurrence of the metabolic syndrome and diabetes in men that participated in two cardiovascular screenings of the Oslo Study 28 years apart. Methods Men residing in Oslo and born in 1923–32 (n = 16 209 were screened for cardiovascular diseases and risk factors in 1972/3. Of the original cohort, those who also lived in same area in 2000 were invited to a repeat screening examination, attended by 6 410 men. The metabolic syndrome was defined according to a modification of the National Cholesterol Education Program criteria. Leisure time physical activity, smoking, educational attendance and the presence of diabetes were self-reported. Results Leisure time physical activity decreased between the first and second screening and tracked only moderately between the two time points (Spearman's ρ = 0.25. Leisure time physical activity adjusted for age and educational attendance was a significant predictor of both the metabolic syndrome and diabetes in 2000 (odds ratio for moderately vigorous versus sedentary/light activity was 0.65 [95% CI, 0.54–0.80] for the metabolic syndrome and 0.68 [0.52–0.91] for diabetes (test for trend P Conclusion Physical activity during leisure recorded in middle age prior to the current waves of obesity and diabetes had an independent predictive association with the presence of the metabolic syndrome but not significantly so with diabetes 28 years later in life, when the subjects were elderly.

  15. A physical activity intervention to treat the frailty syndrome in older persons-results from the LIFE-P study

    Science.gov (United States)

    BACKGROUND: The frailty syndrome is as a well-established condition of risk for disability. Aim of the study is to explore whether a physical activity (PA) intervention can reduce prevalence and severity of frailty in a community-dwelling elders at risk of disability. METHODS: Exploratory analyses ...

  16. Metabolic syndrome and physical decline in older persons: results from the Health, Aging And Body Composition Study

    NARCIS (Netherlands)

    Penninx, B.W.J.H.; Nicklas, B.J.; Newman, A.; Harris, T.; Goodpaster, B.; Satterfield, S.; Rekeneire, de N.; Yaffe, K.; Pahor, M.; Kritchevsky, S.B.

    2009-01-01

    .001). All metabolic syndrome components were significantly associated with incident mobility limitations with the highest RRs for abdominal obesity (RR = 1.54, 95% CI = 1.35-1.75) and hyperglycemia (RR = 1.44, 95% CI = 1.27-1.63). Findings were unchanged when persons with baseline, or incident,

  17. Leigh syndrome associated with a deficiency of the pyruvate dehydrogenase complex: results of treatment with a ketogenic diet

    NARCIS (Netherlands)

    Wijburg, F. A.; Barth, P. G.; Bindoff, L. A.; Birch-Machin, M. A.; van der Blij, J. F.; Ruitenbeek, W.; TURNBULL, D. M.; Schutgens, R. B.

    1992-01-01

    A one-year-old boy suffering from intermittent lactic acidosis, muscular hypotonia, horizontal gaze paralysis and spasticity in both legs had low activity of the pyruvate dehydrogenase complex associated with low amounts of immunoreactive E 1 alpha and E 1 beta. Leigh syndrome was diagnosed on the

  18. Sustained release nitrite therapy results in myocardial protection in a porcine model of metabolic syndrome with peripheral vascular disease

    OpenAIRE

    Bradley, Jessica M.; Islam, Kazi N.; Polhemus, David J.; Donnarumma, Erminia; Brewster, Luke P.; Tao, Ya-Xiong; Goodchild, Traci T.; Lefer, David J.

    2015-01-01

    In a clinically relevant porcine model of metabolic syndrome and peripheral vascular disease, treatment with a novel sustained-release nitrite formulation restored cardiac endothelial nitric oxide synthase, enhancing myocardial nitrite levels, reduced oxidative stress, and improved ex vivo coronary vascular function via endothelium-independent vasodilation mechanism in obese Ossabaw swine.

  19. PET Imaging of Tau Pathology and Relationship to Amyloid, Longitudinal MRI, and Cognitive Change in Down Syndrome: Results from the Down Syndrome Biomarker Initiative (DSBI).

    Science.gov (United States)

    Rafii, Michael S; Lukic, Ana S; Andrews, Randolph D; Brewer, James; Rissman, Robert A; Strother, Stephen C; Wernick, Miles N; Pennington, Craig; Mobley, William C; Ness, Seth; Matthews, Dawn C

    2017-01-01

    Adults with Down syndrome (DS) represent an enriched population for the development of Alzheimer's disease (AD), which could aid the study of therapeutic interventions, and in turn, could benefit from discoveries made in other AD populations. 1) Understand the relationship between tau pathology and age, amyloid deposition, neurodegeneration (MRI and FDG PET), and cognitive and functional performance; 2) detect and differentiate AD-specific changes from DS-specific brain changes in longitudinal MRI. Twelve non-demented adults, ages 30 to 60, with DS were enrolled in the Down Syndrome Biomarker Initiative (DSBI), a 3-year, observational, cohort study to demonstrate the feasibility of conducting AD intervention/prevention trials in adults with DS. We collected imaging data with 18F-AV-1451 tau PET, AV-45 amyloid PET, FDG PET, and volumetric MRI, as well as cognitive and functional measures and additional laboratory measures. All amyloid negative subjects imaged were tau-negative. Among the amyloid positive subjects, three had tau in regions associated with Braak stage VI, two at stage V, and one at stage II. Amyloid and tau burden correlated with age. The MRI analysis produced two distinct volumetric patterns. The first differentiated DS from normal (NL) and AD, did not correlate with age or amyloid, and was longitudinally stable. The second pattern reflected AD-like atrophy and differentiated NL from AD. Tau PET and MRI atrophy correlated with several cognitive and functional measures. Tau accumulation is associated with amyloid positivity and age, as well as with progressive neurodegeneration measurable using FDG and MRI. Tau correlates with cognitive decline, as do AD-specific hypometabolism and atrophy.

  20. Dairy consumption and the incidence of hyperglycemia and the metabolic syndrome: results from a french prospective study, Data from the Epidemiological Study on the Insulin Resistance Syndrome (DESIR).

    Science.gov (United States)

    Fumeron, Frédéric; Lamri, Amel; Abi Khalil, Charbel; Jaziri, Riphed; Porchay-Baldérelli, Isabelle; Lantieri, Olivier; Vol, Sylviane; Balkau, Beverley; Marre, Michel

    2011-04-01

    In the French Data from the Epidemiological Study on the Insulin Resistance Syndrome (DESIR) cohort, cross-sectional analyses have shown that a higher consumption of dairy products and calcium are associated with a lower prevalence of the metabolic syndrome (MetS). We assess the influence of dairy products on 9-year incident MetS and on impaired fasting glycemia and/or type 2 diabetes (IFG/T2D). Men and women who completed a food frequency questionnaire at baseline and after 3 years were studied (n = 3,435). Logistic regression models were used to study associations between the average year 0 and year 3 consumption of milk and dairy products, cheese, dietary calcium density, and incident MetS and IFG/T2D after adjusting for 1) sex, age, alcohol, smoking, physical activity, fat intake and 2) additionally for BMI. Associations between dairy products and continuous variables were studied by repeated-measures ANCOVA, using the same covariates. Dairy products other than cheese, and dietary calcium density, were inversely associated with incident MetS and IFG/T2D; cheese was negatively associated with incident MetS. All three parameters were associated with lower diastolic blood pressure, and with a lower BMI gain. Higher cheese intake and calcium density were associated with a lower increase in waist circumference and lower triglyceride levels. Calcium density was also associated with a lower systolic blood pressure and a lower 9-year increase in plasma triglyceride levels. A higher consumption of dairy products and calcium was associated with a lower 9-year incidence of MetS and IFG/T2D in a large cohort drawn from the general population.

  1. Cubital tunnel syndrome: comparative results of a multicenter study of 4 surgical techniques with a mean follow-up of 92 months.

    Science.gov (United States)

    Bacle, G; Marteau, E; Freslon, M; Desmoineaux, P; Saint-Cast, Y; Lancigu, R; Kerjean, Y; Vernet, E; Fournier, J; Corcia, P; Le Nen, D; Rabarin, F; Laulan, J

    2014-06-01

    Cubital tunnel syndrome is the second most frequent entrapment syndrome. Physiopathology is mixed, and treatment options are multiple, none having yet proved superior efficacy. The present retrospective multicenter study compared results and rates of complications and recurrence between the 4 main cubital tunnel syndrome treatments, to identify trends and optimize outcome. Patients presenting with primary clinical cubital tunnel syndrome diagnosed on electroneuromyography were included and operated on using 1 of the following 4 techniques: open or endoscopic in situ decompression, or subcutaneous or submuscular anterior transposition. Four specialized upper-limb surgery centers participated, each systematically performing 1 of the above procedures. Subjective and objective results and rates of complications and recurrence were compared at end of follow-up. Five hundred and two patients were included and 375 followed up for a mean 92 months (range, 9-144 months); 103 were lost to follow-up and 24 died. Whichever the procedure, more than 90% of patients were cured or showed improvement. There was a single case of scar pain at end of follow-up, managed by endoscopic decompression; there were no other long-term complications. None of the 4 techniques aggravated symptoms. There were 6 recurrences by end of follow-up: 1 associated with open in situ decompression and 5 with submuscular transposition. Surgery was effective in treating cubital tunnel syndrome. Submuscular anterior transposition was associated with recurrence. In contrast to literature reports, subcutaneous anterior transposition, which is a reliable and valid technique, was not associated with a higher complication rate than in situ decompression. Level IV. Multicenter retrospective. Copyright © 2014 Elsevier Masson SAS. All rights reserved.

  2. Small mosaic deletion encompassing the snoRNAs and SNURF-SNRPN results in an atypical Prader-Willi syndrome phenotype.

    Science.gov (United States)

    Anderlid, Britt-Marie; Lundin, Johanna; Malmgren, Helena; Lehtihet, Mikael; Nordgren, Ann

    2014-02-01

    Genetic analyses were performed in a male patient with suspected Prader-Willi syndrome who presented with hypogonadism, excessive eating, central obesity, small hands and feet and cognition within the low normal range. However, he had no neonatal hypotonia or feeding problems during infancy. Chromosome analysis showed a normal male karyotype. Further analysis with array-CGH identified a mosaic 847 kb deletion in 15q11-q13, including SNURF-SNRPN, the snoRNA gene clusters SNORD116 (HBII-85), SNORD115, (HBII-52), SNORD109 A and B (HBII-438A and B), SNORD64 (HBII-13), and NPAP1 (C15ORF2). MLPA confirmed the deletion and the results were compatible with a paternal origin. Metaphase-FISH verified the mosaicism with the deletion present in 58% of leukocytes analyzed. Three smaller deletions in this region have previously been reported in patients with Prader-Willi syndrome phenotype. All three deletions included SNORD116, but only two encompassed parts of SNURF-SNRPN, implicating SNORD116 as the major contributor to the Prader-Willi phenotype. Our case adds further information about genotype-phenotype correlation and supports the hypothesis that SNORD116 plays a major role in the pathogenesis of Prader-Willi syndrome. Furthermore, it examplifies diagnostic difficulties in atypical cases and illustrates the need for additional testing methods when Prader-Willi syndrome is suspected. © 2013 Wiley Periodicals, Inc.

  3. Hydralazine and magnesium valproate as epigenetic treatment for myelodysplastic syndrome. Preliminary results of a phase-II trial.

    Science.gov (United States)

    Candelaria, Myrna; Herrera, Aquileo; Labardini, Juan; González-Fierro, Aurora; Trejo-Becerril, Catalina; Taja-Chayeb, Lucía; Pérez-Cárdenas, Enrique; de la Cruz-Hernández, Erick; Arias-Bofill, Daymi; Vidal, Silvia; Cervera, Eduardo; Dueñas-Gonzalez, Alfonso

    2011-04-01

    Decitabine and azacitidine, two DNA methyltransferase (DNMT) inhibitors, are the current standard of treatment for myelodysplastic syndrome (MDS). Histone deacetylase (HDAC) inhibitors are also being tested against MDS. Both drug classes synergize in their gene reactivating and anticancer activities. The combination of hydralazine and valproate (Transkrip®), a DNMT and HDAC inhibitor, respectively), has been developed as epigenetic therapy under the drug repositioning concept. To evaluate the clinical efficacy and safety of hydralazine and valproate against MDS, an open phase-II study for previously treated patients with MDS was conducted. The hydralazine dose was given according with the acetylator phenotype, and valproate was dosed at 30 mg/kg/day. Response was graded with International Working Group criteria. Toxicity was evaluated by the Common Toxemia Criteria-National Cancer Institute version 3 scale. From November 2007 to January 2010, 12 patients were included. Median age±SD was 53±19.78 years (range, 23-79 years); median time from diagnosis to inclusion in the study was 7.9 months (range 2.6-36.1 months). Median of previous treatment was 2 (range, 1-6). Refractory cytopenia with multilineage dysplasia was diagnosed in ten cases, and refractory anemia with excess of blasts in two. Overall response was documented in six (50%) of 12 cases, including one CR, one PR, and four hematological improvements of the erythroid series. Two patients (16.6%) progressed to acute myeloid leukemia. Hemoglobin increased from 7.4 to 10.3 g/dL (in 13 weeks), neutrophils, from 1.1 to 2.0 (in 3 weeks), and platelets, from 66×10(9) to 72×10(9)/L (in 2 weeks). Transfusional requirements decreased from 2.3 to 0 U bi-monthly for red blood cells and from 0.5 to 0 U bi-monthly for platelets in responding patients. Main toxicities were mild, including somnolence and nausea. Preliminary results of this phase-II study suggest that the combination of hydralazine and valproate is a

  4. Evidence that the etiology of the syndrome containing type 2 diabetes mellitus results from abnormal magnesium metabolism.

    Science.gov (United States)

    Wells, Ibert C

    2008-01-01

    Evidence is reviewed supporting the presence of an inherited structural defect in the plasma membranes of somatic cells of humans who have type 2 diabetes mellitus and sodium-sensitive essential hypertension. This magnesium-binding defect (MgBD) consists of a decreased content of tightly bound Mg2+ ion in the cell membrane and limits the amount of Mg2+ that enters the cell, some of which combines with ATP4-, produced by the cell, to form MgATP2-, the currency of metabolic energy. Consequently, in both prediabetes and overt diabetes, the intracellular concentration of the interdependent Mg2+ and MgATP2- ions is significantly less than normal. These 2 ions are required as cofactors and (or) substrates for some 300 enzyme systems in human metabolism, many of which are involved with insulin. Thus the decreased activities of particular ones of these enzyme systems due to the decreased intracellular [Mg2+] and its dependent [MgATP2-] are responsible for (i) insulin resistance and (ii) decreased insulin secretion and (or) production, the 2 pathophysiological processes required for the occurrence of type 2 diabetes mellitus. These 2 processes can account for all of the morbid symptoms associated with this disease. Thus, the decreased intracellular concentration of the interdependent Mg2+ and MgATP2- ions constitutes the etiology of genetic predisposition to type 2 diabetes mellitus and can be corrected by 2 identified peptide Mg2+-binding promoters that are derived from the carboxyl terminal of the tachykinin substance P and occur in normal blood plasma. Decreased intracellular [Mg2+] and [MgATP2-] can also result from a dietary deficiency of magnesium or from an abnormal accumulation of saturated fatty acids in cell membranes, which inhibits the entrance of Mg2+ into the cell; thus it is also the etiology not only of diabetes caused by magnesium deficiency, but also of the "lipotoxic" type 2 diabetes mellitus. Although these pathologies cannot be corrected by the Mg2

  5. Endourologic Intervention for Management of Infertility in a Man with Zinner Syndrome Resulting in a Natural Pregnancy.

    Science.gov (United States)

    Aghaways, Ismaeel; Ahmed, Shyaw M

    2016-01-01

    Ipsilateral renal agenesis associated with seminal vesicular cysts is an uncommon finding. Zinner syndrome is a rare variant of wolffian duct anomalies with a triad of seminal vesicle cyst, ipsilateral renal agenesis, and male fertility problems due to ejaculatory duct obstruction (EDO). A 28-year-old man with 6 years history of primary infertility presented with left-side lower abdominal pain. A palpable cystic mass was found on digital rectal examination. Semen analysis revealed low volume ejaculate azoospermia. Abdominal ultrasonography revealed a single right kidney and transrectal ultrasonography showed an evidence of left EDO. Transurethral resection of the ejaculatory duct was performed. Semen analysis after 2 weeks showed normal sperm count (23M) and acceptable progressive motility (24%). Eight weeks later, his wife was pregnant with a 7-week viable fetus. Although not a common disease, a careful physical examination and thorough semen analysis interpretation should guide clinicians to diagnose a surgically treatable syndromic cause of male infertility.

  6. RESULTS OF LONG-TERM THERAPY WITH GROWTH-HORMONE IN 2 DOSE REGIMENS IN TURNER SYNDROME

    NARCIS (Netherlands)

    NIENHUIS, HE; RONGENWESTERLAKEN, C; WIT, JM; OTTEN, BJ; KEIZERSCHRAMA, SMPFD; DRAYER, NM; DELEMARREVANDEWAAL, HA; VULSMA, T; OOSTDIJK, W; WAELKENS, JJJ

    1993-01-01

    Girls with Turner syndrome were divided according to age (group A 6-12 years, and group B 12-19 years) and human growth hormone (GH) dose regimen (A1 and B1, three injections/week; A2 and B2, six injections/week). All groups responded to GH, 24 IU/M2/week, with an increase in height velocity, though

  7. Effect of a high intake of cheese on cholesterol and metabolic syndrome: results of a randomized trial.

    Science.gov (United States)

    Nilsen, Rita; Høstmark, Arne Torbjørn; Haug, Anna; Skeie, Siv

    2015-01-01

    Cheese is generally rich in saturated fat, which is associated with increased risk for cardiovascular diseases. Nevertheless, recent reports suggest that cheese may be antiatherogenic. The goal of this study was to assess whether intake of two types of Norwegian cheese, with widely varying fat and calcium content, might influence factors of the metabolic syndrome and serum cholesterol levels differently. A total of 153 participants were randomized to one of three groups: Gamalost(®), a traditional fat- and salt-free Norwegian cheese (50 g/day), Gouda-type cheese with 27% fat (80 g/day), and a control group with a limited cheese intake. Blood samples, anthropometric measurements, blood pressure, and questionnaires about lifestyle and diet were obtained at inclusion and end. At baseline, there were no differences between the groups in relevant baseline characteristics, mean age 43, 52.3% female. After 8 weeks' intervention, there were no changes in any of the metabolic syndrome factors between the intervention groups compared with the control group. There were no increases in total- or LDL cholesterol in the cheese groups compared with the control. Stratified analysis showed that those in the Gouda group with metabolic syndrome at baseline had significant reductions in total cholesterol at the end of the trial compared with control (-0.70 mmol/L, p=0.013), and a significantly higher reduction in mean triglycerides. In the Gamalost group, those who had high total cholesterol at baseline had a significant reduction in total cholesterol compared with control (-0.40 mmol/L, p=0.035). In conclusion, cholesterol levels did not increase after high intake of 27% fat Gouda-type cheese over 8 weeks' intervention, and stratified analysis showed that participants with metabolic syndrome had reduced cholesterol at the end of the trial.

  8. Effect of a high intake of cheese on cholesterol and metabolic syndrome: results of a randomized trial

    OpenAIRE

    Nilsen, Rita; Høstmark, Arne Torbjørn; Haug, Anna; Skeie, Siv

    2015-01-01

    Background: Cheese is generally rich in saturated fat, which is associated with increased risk for cardiovascular diseases. Nevertheless, recent reports suggest that cheese may be antiatherogenic. Objective: The goal of this study was to assess whether intake of two types of Norwegian cheese, with widely varying fat and calcium content, might influence factors of the metabolic syndrome and serum cholesterol levels differently. Design: A total of 153 participants were randomized to one of thre...

  9. Long-Term Results of Serial Transverse Enteroplasty with Neovalve Creation for Extreme Short Bowel Syndrome: Report of Two Cases

    OpenAIRE

    Botey, Mireia; Alastru?, Antonio; Haetta, Henrik; Fern?ndez-Llamazares, Jaume; Clavell, Arantxa; Moreno, Pau

    2017-01-01

    Objective: The aim of this article was to determine whether serial transverse enteroplasty (STEP) and the creation of a new ileocecal valve in extreme short bowel syndrome (SBS) cases (<45 cm) is effective in intestinal adaptation and improvement of nutritional parameters and serum citrulline levels. Patients and Methods: We present 2 cases of SBS treated with STEP. Enterectomy was performed for massive intestinal ischemia secondary to a gastrointestinal stromal tumor in the first case a...

  10. Endourologic Intervention for Management of Infertility in a Man with Zinner Syndrome Resulting in a Natural Pregnancy

    OpenAIRE

    Aghaways, Ismaeel; Ahmed, Shyaw M.

    2016-01-01

    Abstract Background: Ipsilateral renal agenesis associated with seminal vesicular cysts is an uncommon finding. Zinner syndrome is a rare variant of wolffian duct anomalies with a triad of seminal vesicle cyst, ipsilateral renal agenesis, and male fertility problems due to ejaculatory duct obstruction (EDO). Case Presentation: A 28-year-old man with 6 years history of primary infertility presented with left-side lower abdominal pain. A palpable cystic mass was found on digital rectal examinat...

  11. Treatment and Prognosis of Facial Palsy on Ramsay Hunt Syndrome: Results Based on a Review of the Literature.

    Science.gov (United States)

    Monsanto, Rafael da Costa; Bittencourt, Aline Gomes; Bobato Neto, Natal José; Beilke, Silvia Carolina Almeida; Lorenzetti, Fabio Tadeu Moura; Salomone, Raquel

    2016-10-01

    Introduction Ramsay Hunt syndrome is the second most common cause of facial palsy. Early and correct treatment should be performed to avoid complications, such as permanent facial nerve dysfunction. Objective The objective of this study is to review the prognosis of the facial palsy on Ramsay Hunt syndrome, considering the different treatments proposed in the literature. Data Synthesis We read the abstract of 78 studies; we selected 31 studies and read them in full. We selected 19 studies for appraisal. Among the 882 selected patients, 621 (70.4%) achieved a House-Brackmann score of I or II; 68% of the patients treated only with steroids achieved HB I or II, versus 70.5% when treated with steroids plus antiviral agents. Among patients with complete facial palsy (grades V or VI), 51.4% recovered to grades I or II. The rate of complete recovery varied considering the steroid associated with acyclovir: 81.3% for methylprednisolone, 69.2% for prednisone; 61.4% for prednisolone; and 76.3% for hydrocortisone. Conclusions Patients with Ramsay-hunt syndrome, when early diagnosed and treated, achieve high rates of complete recovery. The association of steroids and acyclovir is better than steroids used in monotherapy.

  12. Is the burnout syndrome associated with elder mistreatment in nursing homes: results of a cross-sectional study among nurses.

    Science.gov (United States)

    Neuberg, Marijana; Železnik, Danica; Meštrović, Tomislav; Ribić, Rosana; Kozina, Goran

    2017-09-26

    As this issue has not yet been addressed in Croatia, our aim was to explore the presence of the burnout syndrome in nurses and see how it is related to their perception of elder mistreatment in nursing homes and extended care units. The burnout syndrome was assessed in 171 nursing professionals with a standardised Maslach Burnout Inventory for Human Services Survey (MBI-HSS) for three dimensions: emotional exhaustion (EE), depersonalisation (DP), and personal accomplishment (PA). High EE was reported by 43.9 %, high DP by 22.2 %, and low PA by 39.8 % of the respondents. Their perception of elder abuse and neglect was investigated with two self-completion questionnaires. The answers suggest that elder mistreatment in Croatian nursing homes and extended care units is more common than expected: 55 % witnessed shouting at a resident in anger, 43 % insulting and swearing at a resident, 42 % force-feeding the resident, 39 % ignoring a resident when they called, and 38 % neglecting to turn or move a resident to prevent pressure sores. We also established associations between a number of questionnaire items on perceived abuse and neglect and the burnout syndrome dimensions and determined the items that predicted the type and level of burnout in our respondents. One way to avoid the pitfalls that lead to abuse and neglect is education in schools and at work. We believe our research could contribute to this end.

  13. A de novo deletion in X 27-28 spans at least 3 megabases and results in fragile X syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Lachiewicz, A.; Rao, K.; Aylsworth, A.; Richie, R.; Schwartz, C.; Tarleton, J. [Duke Univ. Medical Center, Durham, NC (United States)]|[Univ. of North Carolina, Chapel Hill, NC (United States)]|[Greenwood Genetic Center, NC (United States)

    1994-07-15

    A 2-year-old boy with Martin-Bell syndrome was referred for molecular testing and found to have a large deletion of FMRI. His mother was found to have two FMR-1 alleles in the normal range for CGG repeats. DNA probes located both proximal and distal to FRAXA were used to delineate the approximation location of the deletion endpoints. Proximal to the fragile site, DXS312 (pX135) was absent but DXS98 (4D8) was present. Distal to the fragile site, DXS296 (VK21) was absent but DXS304 (U6.2) was present. Our patient does not appear to have clinical findings other than those typically associated with fragile X syndrome suggesting that the deletion does not remove other contiguous genes, e.g., IDS. The deletion in this patient is larger than the patient reported by Gedeon et al., in whom approximately 2.5 megabases were estimated to be deleted. Using the physical map of Schlessinger et al., the physical extent of the deletion can be estimated to be at least 3 megabases. This patient may be useful in physical mapping of the chromosomal region near FMR-1. Continued long-term evaluation of this patient may uncover clinical findings suggestive that the deletion removes other genes near to FMR-1 or, alternatively, no findings atypical of the fragile X syndrome suggesting that no other genes lie in the deletion interval.

  14. Treatment and Prognosis of Facial Palsy on Ramsay Hunt Syndrome: Results Based on a Review of the Literature

    Directory of Open Access Journals (Sweden)

    Monsanto, Rafael da Costa

    2016-05-01

    Full Text Available Introduction Ramsay Hunt syndrome is the second most common cause of facial palsy. Early and correct treatment should be performed to avoid complications, such as permanent facial nerve dysfunction. Objective The objective of this study is to review the prognosis of the facial palsy on Ramsay Hunt syndrome, considering the different treatments proposed in the literature. Data Synthesis We read the abstract of 78 studies; we selected 31 studies and read them in full. We selected 19 studies for appraisal. Among the 882 selected patients, 621 (70.4% achieved a House-Brackmann score of I or II; 68% of the patients treated only with steroids achieved HB I or II, versus 70.5% when treated with steroids plus antiviral agents. Among patients with complete facial palsy (grades V or VI, 51.4% recovered to grades I or II. The rate of complete recovery varied considering the steroid associated with acyclovir: 81.3% for methylprednisolone, 69.2% for prednisone; 61.4% for prednisolone; and 76.3% for hydrocortisone. Conclusions Patients with Ramsay-hunt syndrome, when early diagnosed and treated, achieve high rates of complete recovery. The association of steroids and acyclovir is better than steroids used in monotherapy.

  15. The subacromial impingement syndrome of the shoulder treated by conventional physiotherapy, self-training, and a shoulder brace: results of a prospective, randomized study.

    Science.gov (United States)

    Walther, Markus; Werner, Andreas; Stahlschmidt, Theresa; Woelfel, Rainer; Gohlke, Frank

    2004-01-01

    This prospective, randomized trial was performed to compare the results of treating subacromial impingement syndrome of the shoulder by a guided self-training program with the treatment by conventional physiotherapy or a functional brace. Sixty patients with the diagnosis of an outlet impingement syndrome of the shoulder (Neer I and II) were treated either by strengthening the depressors of the humeral head with a guided self-training program, by conventional physiotherapy, or by wearing a functional brace. The Constant-Murley score was assessed after 6 and 12 weeks. Shoulder pain was monitored with a visual analog scale. All three groups showed a significant improvement in shoulder function as well as a significant reduction in pain. There were no statistically significant differences among the groups. Guided self-training can lead to results similar to those of conventional physiotherapy. The comparable effect of the functional brace remains unclear and might be explained by an influence on proprioception.

  16. Improved Hypertension Control with the Imidazoline Agonist Moxonidine in a Multinational Metabolic Syndrome Population: Principal Results of the MERSY Study

    Directory of Open Access Journals (Sweden)

    Irina Chazova

    2013-01-01

    Full Text Available This study was designed to assess the effects of moxonidine on blood pressure and aspects of the metabolic syndrome in racially diverse population of patients encountered in routine medical practice. Physicians collected data on a minimum of three consecutive patients with uncontrolled essential hypertension and criteria for metabolic syndrome, eligible to receive moxonidine (0.2–0.4 mg once daily for 6 months, either as monotherapy or as adjunct therapy to current antihypertensive treatment. Systolic and diastolic blood pressure (BP declined by an average of 24.5+14.3 mmHg and 12.6+9.1 mmHg, respectively. BP responder rates defined as attaining BP < 140/90 mmHg were significantly (P<0.001 and substantially higher among younger patients, nonpostmenopausal women, and patients receiving monotherapy. While potentially relevant improvements in the entire cohort were observed in regard to body weight (-2.1±5.4 kg, fasting plasma glucose (from 6.8 to 6.2 mmol/L, and triglycerides (2.4 to 2.0 mmol/L, statistically significant changes in metabolic parameters could only be detected in subgroup analyses. Moxonidine therapy reduced blood pressure and improved rates of blood pressure control in this group of patients. While the observed trend towards improvement in various metabolic parameters merits further investigation, the overall effect of moxonidine treatment is consistent with a reduction of total cardiovascular risk in this hypertensive metabolic syndrome cohort.

  17. Deferasirox in iron-overloaded patients with transfusion-dependent myelodysplastic syndromes: Results from the large 1-year EPIC study

    DEFF Research Database (Denmark)

    Gattermann, Norbert; Finelli, Carlo; Porta, Matteo Della

    2010-01-01

    The prospective 1-year EPIC study enrolled 341 patients with myelodysplastic syndromes (MDS); although baseline iron burden was >2500ng/mL, approximately 50% were chelation-naïve. Overall median serum ferritin decreased significantly at 1 year (p=0.002). Decreases occurred irrespective of whether...... patients were chelation-naïve or previously chelated; changes were dependent on dose adjustments and ongoing iron intake. Sustained reductions in labile plasma iron were observed. Discontinuation rate (48.7%) and adverse event profile were consistent with previously reported deferasirox data in MDS...

  18. An Early Warning System Based on Syndromic Surveillance to Detect Potential Health Emergencies among Migrants: Results of a Two-Year Experience in Italy

    Directory of Open Access Journals (Sweden)

    Christian Napoli

    2014-08-01

    Full Text Available Profound geopolitical changes have impacted the southern and eastern Mediterranean since 2010 and defined a context of instability that is still affecting several countries today. Insecurity combined with the reduction of border controls has led to major population movements in the region and to migration surges from affected countries to southern Europe, especially to Italy. To respond to the humanitarian emergency triggered by this migration surge, Italy implemented a syndromic surveillance system in order to rapidly detect potential public health emergencies in immigrant reception centres. This system was discontinued after two years. This paper presents the results of this experience detailing its strengths and weaknesses in order to document the applicability and usefulness of syndromic surveillance in this specific context.

  19. GLP-2 administration results in increased proliferation but paradoxically an adverse outcome in a juvenile piglet model of short bowel syndrome

    DEFF Research Database (Denmark)

    Pereira-Fantini, Prue M; Nagy, Eva S; Thomas, Sarah L

    2008-01-01

    OBJECTIVE: The objective of the present study was to examine the effect of glucagon-like peptide-2 (GLP-2) administration in a piglet, juvenile model of short bowel syndrome. MATERIALS AND METHODS: Four-week-old piglets underwent either a sham operation or 75% small bowel resection. Postoperatively...... were obtained from the duodenum, jejunum, ileum, and terminal ileum, and used for morphological and functional analysis. RESULTS: Treatment with GLP-2 resulted in significantly increased numbers of proliferating and apoptotic cells in the ileum of sham and small bowel resection piglets (P ...-2 administration resulted in decreased weight gain, serum albumin, and disaccharidases in both sham and small bowel resection piglets (P

  20. Long-Term Results of Serial Transverse Enteroplasty with Neovalve Creation for Extreme Short Bowel Syndrome: Report of Two Cases.

    Science.gov (United States)

    Botey, Mireia; Alastrué, Antonio; Haetta, Henrik; Fernández-Llamazares, Jaume; Clavell, Arantxa; Moreno, Pau

    2017-01-01

    The aim of this article was to determine whether serial transverse enteroplasty (STEP) and the creation of a new ileocecal valve in extreme short bowel syndrome (SBS) cases (Enterectomy was performed for massive intestinal ischemia secondary to a gastrointestinal stromal tumor in the first case and to catastrophic antiphospholipid syndrome in the second. After enterectomy, the short residual bowel measured 34 cm in the first patient and 45 cm in the second. In both cases STEP, cholecystectomy, and gastrostomy were performed. In the first case a Brooke neovalve was created, and in the other the ileocecal valve was preserved. Both patients could finally be weaned off total parenteral nutrition (TPN) and gastrostomy feeding, maintaining a good nutritional status 1 year after surgery. In extreme SBS, a minimum length of 80-90 cm of functioning small bowel and an intact ileocecal valve are necessary. We plead for the use of STEP with preservation of the ileocecal valve or creation of a neovalve using the Brooke technique in order to achieve the ultimate goal, which is to wean patients off TPN. After a critical review of different surgical techniques, a treatment algorithm is proposed.

  1. Successful management of aortic thrombi resulting in spinal cord infarction in a patient with antiphospholipid antibody syndrome and acute cholecystitis

    Directory of Open Access Journals (Sweden)

    Izumi M

    2011-12-01

    Full Text Available Manabu Izumi, Shoko Teraoka, Keisuke Yamashita, Kenji Matsumoto, Tomohiro Muronoi, Yoshimitsu Izawa, Chikara Yonekawa, Masaki Ano, Masayuki SuzukawaDepartment of Emergency and Critical Care Medicine, Jichi Medical University, Tochigi, JapanAbstract: A 74-year-old man with coronary artery disease was suffering from acute nonobstructive cholecystitis and was admitted to a nearby hospital. Dual antiplatelet (aspirin and ticlopidine therapy was discontinued before preparation for surgical resection of the gall bladder. During his time in hospital he was aware of lumbar pain and weakness in both legs. He was transferred to our hospital for further evaluation and therapy. Diffuse intra-aortic thrombi were revealed by computed tomography with contrast media, and magnetic resonance imaging showed spinal cord infarction. However, computed tomography scans of the descending aorta obtained 4 months before admission exhibited no signs of atherosclerotic plaques or intra-aortic thrombi. Laboratory data suggest that antiphospholipid antibody syndrome might have caused these acute multiple intra-arterial thrombi. By restarting dual antiplatelet therapy and increasing the dose of heparin (from 10,000 IU/day to 15,000 IU/day we successfully managed the patient's clinical condition and symptoms. It is important to understand that stopping antiplatelet therapy may rapidly grow thrombi in patients with a hypercoagulative state.Keywords: intra-aortic thrombus, antiphospholipid antibody syndrome, spinal cord infarction

  2. The Epidemiology of Antisocial Behavioral Syndromes in Adulthood: Results from the National Epidemiologic Survey on Alcohol and Related Conditions-III

    Science.gov (United States)

    Goldstein, Risë B.; Chou, S. Patricia; Saha, Tulshi D.; Smith, Sharon M.; Jung, Jeesun; Zhang, Haitao; Pickering, Roger P.; Ruan, W. June; Huang, Boji; Grant, Bridget F.

    2015-01-01

    Objective To present current, nationally representative U.S. findings on prevalence, correlates, psychiatric comorbidity, disability and treatment of DSM-5 antisocial personality disorder (ASPD) and syndromal adult antisocial behavior without conduct disorder before age 15 (AABS). Method Face-to-face interviews with respondents (n=36,309) in the 2012-2013 National Epidemiologic Survey on Alcohol and Related Conditions–III. DSM-5 alcohol, nicotine, specific drug use disorders, and selected mood, anxiety, trauma-related, eating, and personality disorders were assessed using the Alcohol Use Disorder and Associated Disabilities Interview Schedule–5. Results Prevalences of ASPD and AABS were 4.3% and 20.3%, highest among male, white, Native American, younger, and unmarried respondents, those with high school or less education, lower incomes, and Western residence. Both antisocial syndromes were significantly associated with 12-month and lifetime substance use, dysthymia/persistent depressive, bipolar I, posttraumatic stress and borderline and schizotypal personality disorders (ORs=1.2-7.0). ASPD was additionally associated with 12-month agoraphobia and lifetime generalized anxiety disorder; AABS, with 12-month and lifetime major depressive and 12-month generalized anxiety disorders. Both were associated with significant disability (pantisocial respondents were untreated. Conclusions One in 4 U.S. adults exhibits syndromal antisocial behavior, with similar sociodemographic and psychiatric correlates and disability regardless of whether onset occurred before age 15, illustrating the clinical and public health significance of both ASPD and AABS. In addition to laying groundwork for estimates of social and economic costs, and further etiologic and nosologic research, these findings highlight the urgency of effectively preventing and treating antisocial syndromes, including investigation of whether treatment for comorbidity hastens symptomatic remission and improves

  3. Results of examinations conducted at a Japanese newspaper company and evaluation of changes in metabolic syndrome and lifestyle habits.

    Science.gov (United States)

    Ariyoshi, Hiromi; Suzaki, Yoshika; Takayama, Naoko; Wakeshima, Ruriko; Ishitake, Tatsuya

    2009-12-01

    For purposes of developing effective occupational health nursing interventions, the authors clarified the long-term changes in health care data of employees in different departments at Company A, a Japanese newspaper company. Company A's clerical, sales, editing, and computer departments did not receive special occupational health activities; rather, health management centered on tertiary prevention provided through clinics. In this research, metabolic syndrome diagnostic standards were applied to all employees and changes in lifestyle risk factors over a period of 10 years were compared. The changes from 1998 to 2007 were analyzed for each occupation, and a comparison between the 1998 and 2007 groups was made using a paired t-test. Body mass index, the most significant indicator in the data, significantly increased in all departments. The researchers concluded it is essential to effectively manage employee health based on each occupation's work hours, tasks, and other work characteristics. Copyright 2009, SLACK Incorporated.

  4. Feasibility of robotic radical prostatectomy for medication refractory chronic prostatitis/chronic pelvic pain syndrome: Initial results

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    Sameer Chopra

    2016-01-01

    Full Text Available Four patients diagnosed with chronic prostatitis/chronic pelvic pain syndrome (CP/CPPS, met criteria for National Institute of Health (NIH Category III prostatitis, failed multiple medicinal treatments and underwent robotic radical prostatectomy (RRP. Median operative time (range: 157 (127–259 min. Validated functional questionnaires responses and NIH CP symptom index (NIH-CPSI score were collected for each patient's status at different time points pre- and post-operatively. Median decreases (range were: International Prostate Symptom Score - 14 (1–19; Sexual Health Inventory for Men - 6 (−14–22; and NIH-CPSI total - 23.5 (13–33. Median length of follow-up (range was 34 (24–43 months. RRP appears to be an option for carefully selected patients with medication-refractory CP/CPPS who understand that baseline sexual function may not be restored postoperatively.

  5. Multitasking Abilities in Adolescents With 22q11.2 Deletion Syndrome: Results From an Experimental Ecological Paradigm.

    Science.gov (United States)

    Schneider, Maude; Eliez, Stephan; Birr, Julie; Menghetti, Sarah; Debbané, Martin; Van der Linden, Martial

    2016-03-01

    The 22q11.2 deletion syndrome (22q11.2DS) is associated with cognitive and functional impairments and increased risk for schizophrenia. We characterized multitasking abilities of adolescents with 22q11.2DS using an experimental naturalistic setting and examined whether multitasking impairments were associated with real-world functioning and negative symptoms. Thirty-nine adolescents (19 with 22q11.2DS and 20 controls) underwent the Multitasking Evaluation for Adolescents. Real-world functioning and clinical symptoms were assessed in participants with 22q11.2DS. Adolescents with 22q11.2DS performed poorly in the multitasking evaluation. Our data also suggest that multitasking abilities are related to adaptive functioning in the practical domain and negative symptoms. This study shows that adolescents with 22q11.2DS are characterized by multitasking impairments, which may be relevant for several aspects of the clinical phenotype.

  6. Metabolic syndrome in a French cohort of patients with bipolar disorder: results from the FACE-BD cohort.

    Science.gov (United States)

    Godin, Ophélia; Etain, Bruno; Henry, Chantal; Bougerol, Thierry; Courtet, Philippe; Mayliss, Leroux; Passerieux, Christine; Azorin, Jean-Michel; Kahn, Jean-Pierre; Gard, Sebastien; Costagliola, Dominique; Leboyer, Marion

    2014-10-01

    The aim of this study was to estimate the prevalence of metabolic syndrome (MetS) and its components in a cohort of French patients with bipolar disorder; determine correlations with sociodemographic, clinical, and treatment-related factors; and investigate the gap between optimal care and effective care of the treated patients. 654 bipolar disorder patients from the FACE-BD cohort were included from 2009 to 2012. Sociodemographic and clinical characteristics, lifestyle information, and data on antipsychotic treatment and comorbidities were collected, and a blood sample was drawn. The Structured Clinical Interview for DSM-IV Axis I Disorders was used to confirm the diagnosis of bipolar disorder. Metabolic syndrome was defined according to the National Cholesterol Education Program Adult Treatment Panel III criteria. 18.5% of individuals with bipolar disorder met criteria for MetS. Two-thirds of bipolar disorder patients did not receive adequate treatment for MetS components. Multivariate analysis showed that risk of MetS in men was nearly twice that in women (OR = 1.9; 95% CI, 1.0-3.8), and older patients had a 3.5 times higher risk (95% CI, 1.5-7.8) of developing MetS than patients under the age of 35 years. Moreover, patients receiving antipsychotic treatment had a 2.3 times increased risk (95% CI, 1.2-3.5) of having MetS, independent of other potential confounders. The prevalence of MetS is high in bipolar disorder patients, and there was considerable undertreatment of the components of MetS in this population. The prevention and treatment of cardiovascular diseases in these patients should be assessed systematically. The findings highlight the need for integrated care, with more interaction and coordination between psychiatrists and primary care providers. © Copyright 2014 Physicians Postgraduate Press, Inc.

  7. Cardiorespiratory Fitness, Sedentary Behaviour and Physical Activity Are Independently Associated with the Metabolic Syndrome, Results from the SCAPIS Pilot Study.

    Science.gov (United States)

    Ekblom, Örjan; Ekblom-Bak, Elin; Rosengren, Annika; Hallsten, Mattias; Bergström, Göran; Börjesson, Mats

    2015-01-01

    Previous studies on the relation between lifestyle and the metabolic syndrome lack one or several aspects of the physical activity pattern in the analyses or cardiorespiratory fitness. Likewise, both uni- and triaxial accelerometry have been used, though, the predictive validity of these two modes has not been compared. The aims of the present study were firstly to investigate the independent relation between cardiorespiratory fitness and physical activity pattern to the metabolic syndrome (MetS) and secondly to examine the predictive validity of uni- and triaxial accelerometry, respectively. Data was extracted from the SCAPIS pilot study (n=930, mean age 57.7 yrs). Physical activity pattern was assessed by accelerometry. Cardiorespiratory fitness was estimated using cycle ergometry. MetS was defined per the Adult Treatment Panel III from the National Cholesterol Education Program definition. Time spent sedentary (OR: 2.38, 95% CI: 1.54-4.24 for T3 vs T1), in light intensity (OR: 0.50, 95% CI: 0.28-0.90) and in moderate-to-vigorous activity (OR: 0.33, 95% CI: 0.18-0.61), as well as cardiorespiratory fitness (OR: 0.24, 95% CI:0.12-0.48), were all independently related to the prevalence of MetS after adjustment for potential confounders, fitness and/or the other aspects of the physical activity pattern. In addition, we found that triaxial analyses were more discriminant, with ORs farther away from the reference group and additional significant ORs. The finding that several aspects of the physical activity pattern reveal independent relations to the MetS makes new possible targets for behaviour change of interest, focusing on both exercise and everyday life. When assessing the risk status of a patient, it is advised that triaxial accelerometry is used.

  8. Three-year results of a randomized prospective trial of methionyl human growth hormone and oxandrolone in Turner syndrome.

    Science.gov (United States)

    Rosenfeld, R G; Hintz, R L; Johanson, A J; Sherman, B; Brasel, J A; Burstein, S; Chernausek, S; Compton, P; Frane, J; Gotlin, R W

    1988-08-01

    Seventy girls with Turner syndrome, 4 to 12 years of age, participated in a prospective, randomized study to determine the effects on growth of methionyl human growth hormone (met-hGH) or oxandrolone. Subjects were randomly assigned to receive either no treatment (control) or met-hGH (0.125 mg/kg three times per week), oxandrolone (0.125 mg/kg/day), or combination met-hGH plus oxandrolone. At the end of an initial period of 12 to 20 months, patients in the original control and oxandrolone groups were given combination met-hGH plus oxandrolone. At that time the dosage of oxandrolone was lowered to 0.0625 mg/kg/day. Sixty-five subjects have now completed the first 3 years of the study. Compared with the control growth rate for year 1 (3.8 cm/yr), significant increases in growth rate were seen in all 3 years of combination therapy (9.8, 7.4, and 6.1 cm/yr, respectively) and in the first 2 years of treatment with met-hGH alone (6.6, 5.4, and 4.6 cm/yr). When growth velocity was expressed as standard deviation for age in girls with Turner syndrome, significant increases relative to the control group for year 1 (-0.1 SD) were seen in all three years of both combination therapy and met-hGH alone (combination, +6.6, +4.3, +3.0 SD; met-hGH, +3.1, +2.0, +1.4 SD). After 3 years of treatment, predicted adult height by the method of Bayley-Pinneau increased 4.5 cm in the met-hGH group and 8.2 cm in the combination group.

  9. Cardiorespiratory Fitness, Sedentary Behaviour and Physical Activity Are Independently Associated with the Metabolic Syndrome, Results from the SCAPIS Pilot Study.

    Directory of Open Access Journals (Sweden)

    Örjan Ekblom

    Full Text Available Previous studies on the relation between lifestyle and the metabolic syndrome lack one or several aspects of the physical activity pattern in the analyses or cardiorespiratory fitness. Likewise, both uni- and triaxial accelerometry have been used, though, the predictive validity of these two modes has not been compared.The aims of the present study were firstly to investigate the independent relation between cardiorespiratory fitness and physical activity pattern to the metabolic syndrome (MetS and secondly to examine the predictive validity of uni- and triaxial accelerometry, respectively.Data was extracted from the SCAPIS pilot study (n=930, mean age 57.7 yrs. Physical activity pattern was assessed by accelerometry. Cardiorespiratory fitness was estimated using cycle ergometry. MetS was defined per the Adult Treatment Panel III from the National Cholesterol Education Program definition.Time spent sedentary (OR: 2.38, 95% CI: 1.54-4.24 for T3 vs T1, in light intensity (OR: 0.50, 95% CI: 0.28-0.90 and in moderate-to-vigorous activity (OR: 0.33, 95% CI: 0.18-0.61, as well as cardiorespiratory fitness (OR: 0.24, 95% CI:0.12-0.48, were all independently related to the prevalence of MetS after adjustment for potential confounders, fitness and/or the other aspects of the physical activity pattern. In addition, we found that triaxial analyses were more discriminant, with ORs farther away from the reference group and additional significant ORs.The finding that several aspects of the physical activity pattern reveal independent relations to the MetS makes new possible targets for behaviour change of interest, focusing on both exercise and everyday life. When assessing the risk status of a patient, it is advised that triaxial accelerometry is used.

  10. Serotonin syndrome

    Science.gov (United States)

    Hyperserotonemia; Serotonergic syndrome; Serotonin toxicity; SSRI - serotonin syndrome; MAO - serotonin syndrome ... brain area. For example, you can develop this syndrome if you take migraine medicines called triptans together ...

  11. Gerstmann's Syndrome

    Science.gov (United States)

    ... drawings. Frequently, there is also an impairment in reading. Children with a high level of intellectual functioning as well as those with brain damage may be affected with the disorder. × Definition Gerstmann's syndrome is a cognitive impairment that results ...

  12. Birth of a child with trisomy 9 mosaicism syndrome associated with paternal isodisomy 9: case of a positive noninvasive prenatal test result unconfirmed by invasive prenatal diagnosis.

    Science.gov (United States)

    Ma, Jingmei; Cram, David S; Zhang, Jianguang; Shang, Ling; Yang, Huixia; Pan, Hong

    2015-01-01

    Non-invasive prenatal testing (NIPT) is currently used as a frontline screening test to identify fetuses with common aneuploidies. Occasionally, incidental NIPT results are conveyed to the clinician suggestive of fetuses with rare chromosome disease syndromes. We describe a child with trisomy 9 (T9) mosaicism where the prenatal history reported a positive NIPT result for T9 that was unconfirmed by conventional prenatal diagnosis. NIPT was performed by low coverage whole genome plasma DNA sequencing. Karyotyping and fluorescent in situ hybridization (FISH) analysis with chromosome 9p-ter and 9q-ter probes was used to determine the somatic cell level of T9 mosaicism in the fetus and child. Quantitative fluorescent PCR (Q-PCR) of highly polymorphic short tandem repeat (STR) chromosome 9 markers was also performed to investigate the nature of the T9 mosaicism and the parental origin. A 22 month old girl presented with severe developmental delay, congenital cerebral dysplasia and congenital heart disease consistent with phenotypes associated with T9 mosaicism syndrome. Review of the prenatal testing history revealed a positive NIPT result for chromosome T9. However, follow up confirmatory karyotyping and FISH analysis of fetal cells returned a normal karyotype. Post-natal studies of somatic cell T9 mosaicism by FISH detected levels of approximately 20 % in blood and buccal cells. Q-PCR STR analysis of family DNA samples suggested that the T9 mosaicism originated by post-zygotic trisomic rescue of a paternal meiotic II chromosome 9 non-disjunction error resulting in the formation of two distinct somatic cell lines in the proband, one with paternal isodisomy 9 and one with T9. This study shows that NIPT may also be a useful screening technology to increase prenatal detection rates of rare fetal chromosome disease syndromes.

  13. Benign painful shoulder syndrome: initial results of a single-center prospective randomized radiotherapy dose-optimization trial.

    Science.gov (United States)

    Ott, O J; Hertel, S; Gaipl, U S; Frey, B; Schmidt, M; Fietkau, R

    2012-12-01

    To compare the efficacy of two different dose-fractionation schedules for radiotherapy of patients with benign painful shoulder syndrome. Between February 2006 and February 2010, 312 consecutive evaluable patients were recruited for this prospective randomized trial. All patients received radiotherapy with an orthovoltage technique. One radiotherapy course consisted of 6 single fractions in 3 weeks. In case of insufficient remission of pain after 6 weeks, a second radiation series was performed. Patients were randomly assigned to receive either single doses of 0.5 or 1.0 Gy. The endpoint was pain reduction. Pain was measured before, right after, and 6 weeks after radiotherapy using a visual analogue scale (VAS) and a comprehensive pain score (CPS). The overall response rate for all patients was 83% directly after and 85% 6 weeks after radiotherapy. The mean VAS values before, directly after, and 6 weeks after treatment for the 0.5 and 1.0 Gy groups were 56.8 ± 23.7 and 53.2 ± 21.8 (p = 0.158), 38.2 ± 26.1 and 34.0 ± 24.5 (p = 0.189), and 33.0 ± 27.2 and 23.7 ± 22.7 (p = 0.044), respectively. The mean CPS before, directly after, and 6 weeks after treatment was 9.7 ± 3.0 and 9.5 ± 2.7 (p = 0.309), 6.1 ± 3.6 and 5.4 ± 3.6 (p = 0.096), 5.3 ± 3.7 and 4.1 ± 3.7 (p = 0.052), respectively. Despite a slight advantage in the VAS analysis for the 1.0 Gy group for delayed response, the CPS analysis revealed no statistically significant differences between the two single-dose trial arms for early (p = 0.652) and delayed response quality (p = 0.380). Radiotherapy is an effective treatment option for the management of benign painful shoulder syndrome. Concerning radiation protection, the dose for a radiotherapy series is recommended not to exceed 3-6 Gy.

  14. Analysis of the association of leptin and adiponectin concentrations with metabolic syndrome in children: Results from the IDEFICS study.

    Science.gov (United States)

    Nappo, A; González-Gil, E M; Ahrens, W; Bammann, K; Michels, N; Moreno, L A; Kourides, Y; Iacoviello, L; Mårild, S; Fraterman, A; Molnàr, D; Veidebaum, T; Siani, A; Russo, P

    2017-06-01

    Adipokines may play a role in the pathogenesis of the metabolic syndrome (MetS) in children. We aimed to evaluate the association of leptin, adiponectin, and its ratio (L/A ratio) with the metabolic syndrome (MetS) in a subsample of the IDEFICS (Identification and prevention of Dietary- and lifestyle-induced health EFfects In Children and infantS) cohort. Leptin, adiponectin and MetS parameters were measured in a subsample of 1253 children (3-9.9 years) participating to the IDEFICS study, grouped as: Non-OW (underweight/normal weight) and OW/Ob (overweight/obese). MetS was defined using the sex- and age-specific cut-offs based on the distribution of MetS components in the IDEFICS cohort. The prevalence of the MetS among OW/Ob was 24.8% and 27.1% in boys and girls respectively, whereas ≤2% among Non-OW. OW/Ob had significantly higher leptin and L/A ratio as compared to Non-OW. Significantly higher leptin was found in OW/Ob with MetS as compared with OW/Ob without MetS. Significantly lower adiponectin was observed only in OW/Ob girls as compared to Non-OW. A 1SD increase in leptin and L/A ratio z-scores or a 1SD decrease in adiponectin z-score were significantly associated with higher risk of MetS. After adjustment for BMI or body fat mass (BFM) the association remained significant only for leptin. We showed that in European children, higher leptin concentration is associated with MetS, even after adjusting for BMI or BFM, confirming an early role of leptin in MetS, while the association of adiponectin with MetS seems be mediated by body fat in this age range. Copyright © 2017 The Italian Society of Diabetology, the Italian Society for the Study of Atherosclerosis, the Italian Society of Human Nutrition, and the Department of Clinical Medicine and Surgery, Federico II University. Published by Elsevier B.V. All rights reserved.

  15. Impact of abciximab in diabetic patients with acute coronary syndrome who undergo percutaneous coronary intervention: results from a high-volume, single-center registry

    DEFF Research Database (Denmark)

    Iversen, Allan; Haahr-Pedersen, Sune Ammentorp; Joens, Christian

    2011-01-01

    BACKGROUND: The prevalence of diabetes mellitus (DM) and ischemic heart disease is increasing. Moreover, patients with DM experiencing an acute coronary syndrome (ACS) have an increased risk of adverse outcomes after revascularization compared to non-diabetics. Data have suggested...... that the glycoprotein IIb/IIIa inhibitor abciximab might be more efficient in diabetics than in those without DM. METHODS AND RESULTS: We evaluated the effect of abciximab in patients with DM and ACS from our percutaneous coronary intervention (PCI) registry. Among 5,003 patients with ACS who underwent PCI, 629 had DM...

  16. Loss of Col3a1, the gene for Ehlers-Danlos syndrome type IV, results in neocortical dyslamination.

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    Sung-Jin Jeong

    Full Text Available It has recently been discovered that Collagen III, the encoded protein of the type IV Ehlers-Danlos Syndrome (EDS gene, is one of the major constituents of the pial basement membrane (BM and serves as the ligand for GPR56. Mutations in GPR56 cause a severe human brain malformation called bilateral frontoparietal polymicrogyria, in which neurons transmigrate through the BM causing severe mental retardation and frequent seizures. To further characterize the brain phenotype of Col3a1 knockout mice, we performed a detailed histological analysis. We observed a cobblestone-like cortical malformation, with BM breakdown and marginal zone heterotopias in Col3a1⁻/⁻ mouse brains. Surprisingly, the pial BM appeared intact at early stages of development but starting as early as embryonic day (E 11.5, prominent BM defects were observed and accompanied by neuronal overmigration. Although collagen III is expressed in meningeal fibroblasts (MFs, Col3a1⁻/⁻ MFs present no obvious defects. Furthermore, the expression and posttranslational modification of α-dystroglycan was undisturbed in Col3a1⁻/⁻ mice. Based on the previous finding that mutations in COL3A1 cause type IV EDS, our study indicates a possible common pathological pathway linking connective tissue diseases and brain malformations.

  17. Frequency of Loud Snoring and Metabolic Syndrome among Korean Adults: Results from the Health Examinees (HEXA Study

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    Claire E. Kim

    2017-10-01

    Full Text Available Studies regarding the association between snoring and metabolic abnormalities have been inconsistent. We examine whether snoring frequency and obstructive sleep apnea markers are associated with metabolic syndrome (MetS among Koreans aged 40–69 years. A total of 72,885 subjects (24,856 men, 48,029 women from the Health Examinees Gem study between 2009 and 2013 were included. Snoring frequency was grouped into five categories (never, 1–3/month, 1–3/week, 4–5/week, 6+/week. Obstructive sleep apnea markers included breathing interruptions and awakenings. Adjusted odds ratios (ORs and 95% confidence intervals (95% CIs were calculated through logistic regression. Compared with non-snorers, those who snore 6+/week were associated with increased odds for MetS (OR: 2.07, 95% CI: 1.91–2.25, p-trend < 0.0001 among men; OR: 1.45, CI: 1.33–1.58, p-trend < 0.0001 among women. Snoring frequency is associated with MetS and its components in both men and women. Snoring and obstructive sleep apnea markers are important indicators of sleep quality, which may facilitate early detection of sleep disorders and further complications such as MetS.

  18. Attitudes of Spanish women toward premenstrual symptoms, premenstrual syndrome and premenstrual dysphoric disorder: results of a nationwide survey.

    Science.gov (United States)

    Lete, Iñaki; Dueñas, José Luis; Serrano, Isabel; Doval, José Luis; Martínez-Salmeán, Javier; Coll, Carme; Pérez-Campos, Ezequiel; Arbat, Agnès

    2011-11-01

    To assess the attitudes of women with premenstrual symptoms in relation to their perception of complaints and request for medical advice. Cross-sectional study of a representative cohort of 2018 Spanish women aged 15-49 years. Participants were personally interviewed at home and completed the premenstrual symptoms screening tool. A total of 1554 women (73.7%) complained of some of the premenstrual symptoms during the last 12 menstrual cycles. The prevalence of moderate or severe premenstrual syndrome (PMS) was 8.9% and the prevalence of premenstrual dysphoric disorder (PMDD) 1.1%. Only 291 (18.7%) women had sought medical advice. The main reason given by 90.6% of symptomatic women for not seeking medical consultation was to consider that symptoms were normal. A total of 175 (60.1%) women received pharmacological treatment (hormonal contraceptives in 95% followed by analgesics in 50% and anti-inflammatory agents in 44%), 20% were not treated because physicians considered that symptoms were not important and would disappear spontaneously, and 12% received only advice to change life style. Women suffering from PMS or PMDD do not usually seek medical advice and among those seeking medical care, in many cases, an adequate response to their demands is not obtained. Copyright © 2011 Elsevier Ireland Ltd. All rights reserved.

  19. Good outcome in patients with early dietary treatment of GLUT-1 deficiency syndrome: results from a retrospective Norwegian study.

    Science.gov (United States)

    Ramm-Pettersen, Anette; Nakken, Karl O; Skogseid, Inger M; Randby, Hans; Skei, Erik B; Bindoff, Laurence A; Selmer, Kaja K

    2013-05-01

    The aim of this study was to characterize patients diagnosed with glucose transporter protein-1 deficiency syndrome (GLUT-1 DS) clinically and genetically, and to evaluate the effect of treatment with the classic ketogenic or modified Atkins diet. We retrospectively studied medical records of 10 patients diagnosed with GLUT-1 DS. Four females and six males with a median age of 15 years were included. The study illustrates the genetic and clinical heterogeneity of GLUT-1 DS. Analysis of the SLC2A1 gene disclosed a variety of mutation types. The time between onset of symptoms and diagnosis was more than 11 years on average. The outcome in those with early diagnosis and intervention was surprisingly good. All but one patient with the classic phenotype became seizure free after treatment with the classic ketogenic or modified Atkins diet. Acetazolamide was effective in one patient with paroxysmal exercise-induced dyskinesia. A point prevalence of GLUT-1 DS in Norway was estimated as 2.6 per 1,000,000 inhabitants. Although the long-term prognosis in patients with GLUT-1 DS partly depends on the underlying genetics, our study supports the assumption that early initiation of treatment with a ketogenic diet may positively affect the outcome. © The Authors. Developmental Medicine & Child Neurology © 2013 Mac Keith Press.

  20. BINGE ALCOHOL ADMINISTRATION ON PREGNANT RATS RESULTS IN DECREASING OF INSULIN LIKE GROWTH FACTOR-1 AND ALDEHYDE DEHYDROGENASE, INCREASING APOPTOSIS INDEX, AND FETAL ALCOHOL SYNDROME IN OFFSPRINGS

    Directory of Open Access Journals (Sweden)

    S. Suherman

    2016-01-01

    Full Text Available Background: Addiction of alcoholic beverage by early pregnancy women results in fetal alcohol syndrome of her baby. This study aims to investigate fetal alcoholic syndrome due to binge alcoholic drinking by the early pregnant of wistar rat. Methods: This is an experimental study applying posttest only control group design. Wistar Rats were in preconditioning for pregnancy and divided into two groups, i.e. one group was fed with normal feeding and the other group was fed with normal feeding and 40% of ethanol. The off spring then were observed and divided into three groups, i.e. normal fetal, normal fetal from the mother fed with ethanol, and fetal alcoholic syndrome. Insulin like growth factor (IGF-1, aldehyde dehydrogenase (ALDH, apoptosis index, pathology of their brain and heart were observed. The different of all these parameters were then compared by applying one way anova, and considered significant at p < 0.05. Results: In this study we found that there were fetals alcoholic syndrome (FAS due to the mother of the Wistar Rat fed with ethanol during their pregnancy. There were also a significant different of IGF-1, ALDH, apoptosis index between these three groups (p < 0.05, i.e. normal baby, normal fed with ethanol, and FAS. IGF-1 for these three groups were 56.59±0.52 ng/ml, 55.17±2.41 ng/ml, and 36.64±4.86 ng/ml, respectively. ALDH for the groups were 21.41±2.38 ng/ml, 21.16±4.77 ng/ml, and 17.05±2.68 ng/ml, respectively. Their brain apoptosis indexes were 4.56±0.78, 4.58±1.17, and 7.86±1.31, respectively. Heart apoptosis indexes were found 2.81±1.18, 5.36±1.37, and 7.50±1.43, respectively. Conclusion: Binge alcohol drinking during pregnancy of Wistar Rat results in FAS and identified by decrease of IGF-1, ALDH and increase of brain apoptosis index and heart apoptosis index of the off spring.

  1. Cardiovascular disease risk burden in primary Sjögren's syndrome: results of a population-based multicentre cohort study.

    Science.gov (United States)

    Bartoloni, E; Baldini, C; Schillaci, G; Quartuccio, L; Priori, R; Carubbi, F; Bini, V; Alunno, A; Bombardieri, S; De Vita, S; Valesini, G; Giacomelli, R; Gerli, R

    2015-08-01

    Systemic autoimmune diseases, in particular systemic lupus erythematosus and rheumatoid arthritis, are characterized by a high risk of premature cardiovascular (CV) events. Disease-related characteristics and traditional CV disease risk factors may contribute to atherosclerotic damage. However, there are limited data on the risk of overt CV events in primary Sjögren's syndrome (pSS). We retrospectively analysed a cohort of patients with 1343 pSS. Disease-related clinical and laboratory data, traditional CV disease risk factors and overt CV events were recorded. Prevalence of traditional CV disease risk factors and of major CV events was compared between a subgroup of 788 female patients with pSS aged from 35 to 74 years and 4774 age-matched healthy women. Hypertension and hypercholesterolaemia were more prevalent, whereas smoking, obesity and diabetes mellitus were less prevalent, in women with pSS than in control subjects. Cerebrovascular events (2.5% vs. 1.4%, P = 0.005) and myocardial infarction (MI) (1.0% vs. 0.4%, P = 0.002) were more common in patients with pSS. In the whole population, central nervous system involvement (odds ratio (OR) 5.6, 95% confidence interval (CI) 1.35-23.7, P = 0.02) and use of immunosuppressive therapy (OR 1.9, 95% CI 1.04-3.70, P = 0.04) were associated with a higher risk of CV events. Patients with leucopenia had a higher risk of angina (P = 0.01). pSS is associated with an increased risk of cerebrovascular events and MI. Disease-related clinical and immunological markers may have a role in promoting CV events. © 2015 The Association for the Publication of the Journal of Internal Medicine.

  2. Safety and Efficacy of Prasugrel and Ticagrelor in Acute Coronary Syndrome. Results of a "Real World" Multicenter Registry.

    Science.gov (United States)

    Almendro-Delia, Manuel; García-Alcántara, Ángel; de la Torre-Prados, M Victoria; Reina-Toral, Antonio; Arboleda-Sánchez, José Andrés; Butrón-Calderón, Michel; García-Guerrero, Alberto; de la Chica-Ruiz Ruano, Rafael; Hidalgo-Urbano, Rafael; García-Rubira, Juan C

    2017-05-30

    The incorporation of the new antiplatelet agents (NAA) prasugrel and ticagrelor into routine clinical practice is irregular and data from the "real world" remain scarce. We aimed to assess the time trend of NAA use and the clinical safety and efficacy of these drugs compared with those of clopidogrel in a contemporary cohort of patients with acute coronary syndromes (ACS). A multicenter retrospective observational study was conducted in patients with ACS admitted to coronary care units and prospectively included in the ARIAM-Andalusia registry between 2013 and 2015. In-hospital rates of major cardiovascular events and bleeding with NAA vs clopidogrel were analyzed using propensity score matching and multivariate regression models. The study included 2906 patients: 55% received clopidogrel and 45% NAA. A total of 60% had ST-segment elevation ACS. Use of NAA significantly increased throughout the study. Patients receiving clopidogrel were older and were more likely to have comorbidities. Total mortality, ischemic stroke, and stent thrombosis were lower with NAA (2% vs 9%, P < .0001; 0.1% vs 0.5%, P = .025; 0.07% vs 0.5%, P = .025, respectively). There were no differences in the rate of total bleeding (3% vs 4%; P = NS). After propensity score matching, the mortality reduction with NAA persisted (OR, 0.37; 95%CI, 0.13 to 0.60; P < .0001) with no increase in total bleeding (OR, 1.07; 95%CI, 0.18 to 2.37; P = .094). In a "real world" setting, NAA are selectively used in younger patients with less comorbidity and are associated with a reduction in major cardiac events, including mortality, without increasing bleeding compared with clopidogrel. Copyright © 2017 Sociedad Española de Cardiología. Published by Elsevier España, S.L.U. All rights reserved.

  3. Gender differences in the management of acute coronary syndrome patients: One year results from HPIAR (HP-India ACS Registry).

    Science.gov (United States)

    Mahajan, Kunal; Negi, Prakash Chand; Merwaha, Rajeev; Mahajan, Nitin; Chauhan, Vivek; Asotra, Sanjeev

    2017-12-01

    Data from high-income countries suggest that women receive less intensive diagnostic and therapeutic management than men for acute coronary syndrome (ACS). There is a paucity of such data in the Indian population, which is 69% rural and prior studies focused mostly on urban populations. The objective of the present study was to identify the gender based differences in ACS management, if any, in a predominantly rural population. Data from 35 hospitals across Himachal Pradesh covering >90% of state population were collected for one year (July 2015-June 2016). A total of 2118 ACS subjects met inclusion criteria and baseline characteristics, in-hospital treatments and mortality rates were analyzed. Women constituted less than one-third of ACS population. Women were older compared to men and were more likely to present with NSTEMI/UA. Misinterpretation of initial symptoms and late presentation were also common in women. Fewer women received optimal guideline based treatment and PCI (0.9% vs 4.2%, p1 (27.3% vs 20.4%, pgender and mortality was attenuated (adjusted odds ratio [OR]=1.36 [0.77-2.38]). The present study from India, is the first of its kind to evaluate the gender based differences among ACS patients, in a predominantly rural population. Our analysis demonstrates a significant gender based difference between symptom awareness and delay in presentation, management and in-hospital outcome. Further studies are warranted across other parts of country to investigate this gender disparity. Copyright © 2017 Elsevier B.V. All rights reserved.

  4. Osteopathic manipulative treatment in conjunction with medication relieves pain associated with fibromyalgia syndrome: results of a randomized clinical pilot project.

    Science.gov (United States)

    Gamber, Russell G; Shores, Jay H; Russo, David P; Jimenez, Cynthia; Rubin, Benard R

    2002-06-01

    Osteopathic physicians caring for patients with fibromyalgia syndrome (FM) often use osteopathic manipulative treatment (OMT) in conjunction with other forms of standard medical care. Despite a growing body of evidence on the efficacy of manual therapy for the treatment of selected acute musculoskeletal conditions, the role of OMT in treating patients with chronic conditions such as FM remains largely unknown. Twenty-four female patients meeting American College of Rheumatology criteria for FM were randomly assigned to one of four treatment groups: (1) manipulation group, (2) manipulation and teaching group, (3) moist heat group, and (4) control group, which received no additional treatment other than current medication. Participants' pain perceptions were assessed by use of pain thresholds measured at each of 10 bilateral tender points using a 9-kg dolorimeter, the Chronic Pain Experience Inventory, and the Present Pain Intensity Rating Scale. Patients' affective response to treatment was assessed using the Self-Evaluation Questionnaire. Activities of daily living were assessed using the Stanford Arthritis Center Disability and Discomfort Scales: Health Assessment Questionnaire. Depression was assessed using the Center for Epidemiological Studies Depression Scale. Significant findings between the four treatment groups on measures of pain threshold, perceived pain, attitude toward treatment, activities of daily living, and perceived functional ability were found. All of these findings favored use of OMT. This study found OMT combined with standard medical care was more efficacious in treating FM than standard care alone. These findings need to be replicated to determine if cost savings are incurred when treatments for FM incorporate nonpharmacologic approaches such as OMT.

  5. Psychiatric disorders in children with Prader-Willi syndrome-Results of a 2-year longitudinal study.

    Science.gov (United States)

    Lo, S T; Collin, P J L; Hokken-Koelega, A C S

    2015-05-01

    Psychiatric disorders such as psychosis are highly prevalent in adults with Prader-Willi syndrome (PWS). However, knowledge about the presence and progression of psychiatric disorders in children with PWS is very limited. Sixty-one children with PWS aged 7-17 years were tested using the Diagnostic Interview Schedule for Children (DISC) and Compulsive Behaviour Checklist (CBC), and 38/61 were retested after 2 years. Prevalence of psychiatric disorders and the association with age, gender, genetic subtype, and total IQ were assessed. In addition, occurrence and characteristics of compulsions were determined. Prior to the study, two boys were known with psychotic symptoms and treated with antipsychotics. At baseline, none scored positive for psychotic disorder. During the follow-up, only one boy with known psychotic symptoms required a dose adjustment of his antipsychotic medication. After 2 years, none of the children had a psychotic disorder according to the DISC. Oppositional defiant disorder (ODD) was the most common diagnosis and present in 20% of children with PWS, and this was not associated with age (β = -0.081, P = 0.546), gender (β = 0.013, P = 0.923), genetic subtype (β = -0.073, P = 0.584), or total IQ (β = -0.150, P = 0.267). The most common compulsions were hoarding and fixed hygiene sequences. In our large group of 61 children with PWS, the majority had no psychotic disorder and no progression was found during 2-year follow-up. ODD was present in 20% of children. No changes in the prevalence of psychiatric disorders were found during the 2-year follow-up study and genetic subtype was not related to psychosis, depression, or ODD. © 2015 Wiley Periodicals, Inc.

  6. Association between organic food consumption and metabolic syndrome: cross-sectional results from the NutriNet-Santé study.

    Science.gov (United States)

    Baudry, Julia; Lelong, Hélène; Adriouch, Solia; Julia, Chantal; Allès, Benjamin; Hercberg, Serge; Touvier, Mathilde; Lairon, Denis; Galan, Pilar; Kesse-Guyot, Emmanuelle

    2017-08-02

    Metabolic syndrome (MetS), a multicomponent condition, is a cardiovascular disease predictor. Although exposure to agricultural pesticides has been suggested as a potential contributor to the rising rates of obesity, type 2 diabetes, and other features of metabolic disorders, no studies have focused on the association between consumption of organic food (produced without synthetic pesticides) and MetS. We aimed to investigate the cross-sectional association between organic food consumption and MetS in French adults to determine whether it would be worth conducting further studies, particularly large prospective and randomised trials. A total of 8174 participants from the NutriNet-Santé study who attended a clinical visit and completed an organic food frequency questionnaire were included in this cross-sectional analysis. We evaluated the association between the proportion of organic food in the diet (overall and by food group) and MetS using Poisson regression models while adjusting for potential confounders. Higher organic food consumption was negatively associated with the prevalence of MetS: adjusted prevalence ratio was 0.69 (95% CI 0.61, 0.78) when comparing the third tertile of proportion of organic food in the diet with the first one (p value organic plant-based foods was also related to a lower probability of having MetS. In addition, when stratifying by lifestyle factors (nutritional quality of the diet, smoking status, and physical activity), a significant negative association was detected in each subgroup (p values organic food consumption was associated with a lower probability of having MetS. Additional prospective studies and randomised trials are required to ascertain the relationship between organic food consumption and metabolic disorders.

  7. Real-World Experience and Impact of Canakinumab in Cryopyrin-Associated Periodic Syndrome: Results From a French Observational Study.

    Science.gov (United States)

    Kone-Paut, I; Quartier, P; Fain, O; Grateau, G; Pillet, P; Le Blay, P; Bonnet, F; Despert, V; Stankovic-Stojanovic, K; Willemin, L; Quéré, S; Reigneau, O; Hachulla, E

    2017-06-01

    The ENVOL study was designed to assess the psychosocial impact of disease and therapy in a French cohort of cryopyrin-associated periodic syndromes (CAPS) patients (and caregivers) treated with canakinumab. The ENVOL study was a multicenter, observational study of CAPS patients given ≥1 canakinumab dose. Data were collected before treatment, at 6 and 12 months afterward, and at the last visit. Patients and caregivers completed questionnaires assessing changes from the 12 months of pretreatment to 12 months prior to interview. Data were analyzed retrospectively. The study included 10 physicians and 68 patients (53 adults, 15 children). Sixty-five patients (95.6%) were still receiving canakinumab at the last visit (median 5 years after starting therapy). The mean ± SD score for patient-reported general health increased from 7 ± 2.9 before canakinumab to 2.7 ± 2.7 after treatment (P 40% of respondents. Caregivers spent a median of 3 versus 0.5 hours/week on care in the 12 months of pretreatment versus 12 months prior to interview (P mean ± SD per patient per year: 5.2 ± 7.4 versus 8.5 ± 7.2 pretreatment), internists/rheumatologists/dermatologists (2.0 ± 2.1 versus 3.7 ± 3.9), and pediatricians (1.8 ± 1.5 versus 4.4 ± 4.2). Long-term treatment with canakinumab achieves a highly relevant improvement in the physical, emotional, and social lives of patients with CAPS, accompanied by a marked reduction in support required from caregivers and in health care consultations. © 2016, American College of Rheumatology.

  8. European survey of diagnosis and management of the polycystic ovary syndrome: results of the ESE PCOS Special Interest Group's Questionnaire.

    Science.gov (United States)

    Conway, Gerard; Dewailly, Didier; Diamanti-Kandarakis, Evanthia; Escobar-Morreale, Hector F; Franks, Steven; Gambineri, Alessandra; Kelestimur, Fahrettin; Macut, Djuro; Micic, Dragan; Pasquali, Renato; Pfeifer, Marija; Pignatelli, Duarte; Pugeat, Michel; Yildiz, Bulent

    2014-10-01

    There is evidence for differences between endocrinologists and other specialists in their approach to diagnosis and management of the polycystic ovary syndrome (PCOS). A mailed survey consisting of a simple questionnaire aiming to understand current practice for diagnosis and management of the PCOS by specialists across Europe. The questionnaire consisted of 23 questions grouped to achieve information on i) the general characteristics of the respondents, ii) patients with PCOS seen by endocrinologists, iii) the main diagnostic criteria, iv) biochemical parameters used in the differential diagnosis of hyperandrogenism, v) long-term concerns, and, finally vi) treatment choices. A total of 357 questionnaires representing 13.3% of the members of European Society of Endocrinology (ESE) were available for final analysis; 93% of the respondents were endocrinologists In relation to the diagnostic criteria, respondents were most likely to select menstrual irregularity as the most frequent criteria used for the diagnosis of PCOS although very high rates were achieved for the use of hirsutism and biochemical hyperandrogenism. It therefore appears that the NIH criteria were followed by the majority of respondents. The most frequent biochemical parameters in the differential diagnosis of hyperandrogenism were total testosterone or free androgen index. Obesity and type 2 diabetes were regarded as the principal long-term concerns for PCOS. The most common treatments for patients with PCOS were metformin (33%), lifestyle modification (25%), and oral contraceptives (22%). More direct treatments of infertility include clomiphene citrate alone or in combination with metformin, prescribed by 9 and 23%, respectively, whereas only 6% used other methods for induction of ovulation. The survey produced by ESE is a good start for evaluating the perspective in the diagnosis and treatment of PCOS by endocrinologists in Europe. © 2014 European Society of Endocrinology.

  9. High sensitivity cardiac troponin T in patients not having an acute coronary syndrome: results from the TRAPID-AMI study.

    Science.gov (United States)

    Nowak, Richard; Mueller, Christian; Giannitsis, Evangelos; Christ, Michael; Ordonez-Llanos, Jordi; DeFilippi, Christopher; McCord, James; Body, Richard; Panteghini, Mauro; Jernberg, Tomas; Plebani, Mario; Verschuren, Franck; French, John K; Christenson, Robert; Jacobsen, Gordon; Dinkel, Carina; Lindahl, Bertil

    2017-12-01

    To describe the baseline, 1 hr and delta high sensitivity cardiac troponin (hs-cTnT) values in patients with suspected acute myocardial infarction (AMI) but without a final acute coronary syndrome (ACS) diagnosis. hs-cTnT assay for RAPID rule out of acute myocardial infarction (TRAPID-AMI) was a prospective diagnostic trial that enrolled emergency department (ED) patients with suspected AMI. Final patient diagnoses were adjudicated by a clinical events committee and subjects placed in different clinical groups: AMI, unstable angina, non-ACS cardiac, non-cardiac and unknown origin. The baseline, 1 hr and delta hs-cTnT values were analysed in the 902 non-ACS patients. Amongst the 1282 studied the patient groups were 213 (17%) AMI, 167 (13%) unstable angina, 113 (9%) non-ACS cardiac, 288 (22%) non-cardiac and 501 (39%) unknown origin. The hs-cTnT values in the non-cardiac and unknown origin groups were combined. The median hs-cTnT values (ng/L) were higher (p < 0.001) in the non-ACS cardiac compared to the non-cardiac/unknown origin group at baseline (11.8, <5) and 1 hr (12.3, <5). Their negative predictive values were 0.955 (baseline) and 0.954 (1 hr) for predicting non-ACS cardiac versus non-cardiac/unknown origin diagnoses. Hs-cTnT may help predict whether non-ACS ED patients have a final non-ACS cardiac or non-cardiac/unknown origin diagnoses.

  10. Predictors of depressive disorder following acute coronary syndrome: Results from K-DEPACS and EsDEPACS.

    Science.gov (United States)

    Kang, Hee-Ju; Stewart, Robert; Bae, Kyung-Yeol; Kim, Sung-Wan; Shin, Il-Seon; Hong, Young Joon; Ahn, Youngkeun; Jeong, Myung Ho; Yoon, Jin-Sang; Kim, Jae-Min

    2015-08-01

    Depression is common and associated with poor prognosis in acute coronary syndrome (ACS). There are few reports on the predictors of incident and persistent post-discharge depressive disorders in ACS. This study aimed to investigate the incidence and persistence of depressive disorder over a one year follow-up, and predictors of these outcomes. 1152 patients with recently developed ACS were recruited at baseline, and 828 were followed one year thereafter. Depressive disorder (major and minor) was diagnosed according to DSM-IV criteria, and analyzed according to baseline prevalence, and follow up incidence and persistence. Of 446 baseline participants with depressive disorders, 300 were randomized to a 24-week double blind trial of escitalopram or placebo, while the remaining 146 received medical treatment as usual. Associations of baseline socio-demographic and clinical characteristics with depressive disorder were investigated using logistic regression models. Two-week prevalence, and one-year incidence and persistence of depressive disorder were 38.7%, 13.1%, and 46.3%, respectively. Baseline depressive disorder was independently associated with female, lower educational level, previous ACS and higher heart rate. Incident depressive disorder was independently predicted by current unemployment, family history of depression, higher baseline Hamilton Depression Rating Scale(HAMD) score and lower left ventricular ejection fraction, and persistent depressive disorder by higher baseline HAMD score and the placebo or medical treatment as usual group in the 24-week trial. The generalizability should be considered since this study conducted in a single center. Depressive disorder in ACS patients is common and often persistent, and is associated with baseline characteristics and insufficient treatment. Appropriate detection and treatment of depressive disorder are clearly important in ACS patients. Copyright © 2015 Elsevier B.V. All rights reserved.

  11. Association of daily coffee and tea consumption and metabolic syndrome: results from the Polish arm of the HAPIEE study.

    Science.gov (United States)

    Grosso, Giuseppe; Stepaniak, Urszula; Micek, Agnieszka; Topor-Mądry, Roman; Pikhart, Hynek; Szafraniec, Krystyna; Pająk, Andrzej

    2015-10-01

    The aim of this study was to evaluate whether daily consumption of coffee and tea was associated with components and prevalence of metabolic syndrome (MetS) in the Polish arm of the Health, Alcohol and Psychosocial factors In Eastern Europe cohort study. A cross-sectional population-based survey including 8,821 adults (51.4% female) was conducted in Krakow, Poland. Coffee and tea consumption was evaluated using food frequency questionnaires. MetS was defined according to the International Diabetes Federation definition. Linear and logistic regression models were performed to estimate odds ratios and confidence intervals. Among high coffee and tea consumers (3 or more cups/day), high prevalence of female gender, young age, medium-high educational and occupational level, high total energy intake, and smoking habit were found. High coffee drinkers had lower BMI, waist circumference, systolic and diastolic blood pressure, triglycerides, and higher HDL cholesterol than those drinking less than 1 cup/day. In contrast, high tea consumers had lower BMI, waist circumference, but not diastolic blood pressure, which was higher than low drinkers. After adjusting for potential confounding factors, both higher coffee and tea consumption were negatively associated with MetS (OR 0.75, 95% CI 0.66, 0.86 and OR 0.79, 95% CI 0.67, 0.92, respectively). Among specific components of MetS, high coffee consumption was negatively associated with waist circumference, hypertension, and triglycerides, whereas tea consumption with central obesity and fasting plasma glucose in women, but not in men. Coffee and tea consumption was negatively associated with MetS and some of its components.

  12. Sustained release nitrite therapy results in myocardial protection in a porcine model of metabolic syndrome with peripheral vascular disease.

    Science.gov (United States)

    Bradley, Jessica M; Islam, Kazi N; Polhemus, David J; Donnarumma, Erminia; Brewster, Luke P; Tao, Ya-Xiong; Goodchild, Traci T; Lefer, David J

    2015-07-15

    Metabolic syndrome (MetS) reduces endothelial nitric oxide (NO) bioavailability and exacerbates vascular dysfunction in patients with preexisting vascular diseases. Nitrite, a storage form of NO, can mediate vascular function during pathological conditions when endogenous NO is reduced. The aims of the present study were to characterize the effects of severe MetS and obesity on dyslipidemia, myocardial oxidative stress, and endothelial NO synthase (eNOS) regulation in the obese Ossabaw swine (OS) model and to examine the effects of a novel, sustained-release formulation of sodium nitrite (SR-nitrite) on coronary vascular reactivity and myocardial redox status in obese OS subjected to critical limb ischemia (CLI). After 6 mo of an atherogenic diet, obese OS displayed a MetS phenotype. Obese OS had decreased eNOS functionality and NO bioavailability. In addition, obese OS exhibited increased oxidative stress and a significant reduction in antioxidant enzymes. The efficacy of SR-nitrite therapy was examined in obese OS subjected to CLI. After 3 wk of treatment, SR-nitrite (80 mg · kg(-1) · day(-1) bid po) increased myocardial nitrite levels and eNOS function. Treatment with SR-nitrite reduced myocardial oxidative stress while increasing myocardial antioxidant capacity. Ex vivo assessment of vascular reactivity of left anterior descending coronary artery segments demonstrated marked improvement in vasoreactivity to sodium nitroprusside but not to substance P and bradykinin in SR-nitrite-treated animals compared with placebo-treated animals. In conclusion, in a clinically relevant, large-animal model of MetS and CLI, treatment with SR-nitrite enhanced myocardial NO bioavailability, attenuated oxidative stress, and improved ex vivo coronary artery vasorelaxation.

  13. Mothers' knowledge and attitudes to sudden infant death syndrome risk reduction messages: results from a UK survey.

    Science.gov (United States)

    Pease, Anna S; Blair, Peter S; Ingram, Jenny; Fleming, Peter J

    2018-01-01

    To investigate mothers' knowledge of reducing the risks for sudden infant death syndrome (SIDS) and attitudes towards safer sleep practices. A cross-sectional survey was carried out in deprived areas of Bristol, UK. Recruitment took place in 2014 at local health visitor-led baby clinics. Of 432 mothers approached, 400 (93%) completed the face-to-face survey. Participants with infants at 'higher' risk of SIDS (using an algorithm based on a previous observational study) were compared with those at 'lower' risk. The survey asked participants to recall three SIDS risk reduction strategies (unprompted), and scored responses to 14 SIDS risk-related infant sleep scenarios (prompted). Overall, 48/400 (12%) mothers were classified as higher risk. Mothers in the higher risk group were less likely to breast feed (multivariate OR=3.59(95% CI 1.46 to 8.86)), less likely to be able to cite two or more unprompted correct SIDS risk reduction strategies (multivariate OR=2.05(95% CI 1.02 to 4.13)) and scored lower on prompted safer sleep scenarios overall.Notably, only 206/400 (52%) of all mothers surveyed (33% in the higher risk group) from these deprived areas in Bristol identified infant sleep position as a risk reduction strategy for SIDS, despite 25 years of campaigns. Mothers in the higher risk group were disadvantaged when it came to some aspects of knowledge of SIDS risk reduction and attitudes to safer sleep. The initial 'Back-to Sleep' message that dramatically reduced these deaths a generation ago needs more effective promotion for today's generation of mothers. © Article author(s) (or their employer(s) unless otherwise stated in the text of the article) 2018. All rights reserved. No commercial use is permitted unless otherwise expressly granted.

  14. Tailored Behavioral Intervention Among Blacks With Metabolic Syndrome and Sleep Apnea: Results of the MetSO Trial.

    Science.gov (United States)

    Jean-Louis, Girardin; Newsome, Valerie; Williams, Natasha J; Zizi, Ferdinand; Ravenell, Joseph; Ogedegbe, Gbenga

    2017-01-01

    To assess effectiveness of a culturally and linguistically tailored telephone-delivered intervention to increase adherence to physician-recommended evaluation and treatment of obstructive sleep apnea (OSA) among blacks. In a two-arm randomized controlled trial, we evaluated effectiveness of the tailored intervention among blacks with metabolic syndrome, relative to those in an attention control arm (n = 380; mean age = 58 ± 13; female = 71%). The intervention was designed to enhance adherence using culturally and linguistically tailored OSA health messages delivered by a trained health educator based on patients' readiness to change and unique barriers preventing desired behavior changes. Analysis showed 69.4% of the patients in the intervention arm attended initial consultation with a sleep specialist, compared to 36.7% in the control arm; 74.7% of those in the intervention arm and 66.7% in the control arm completed diagnostic evaluation; and 86.4% in the intervention arm and 88.9% in the control arm adhered to PAP treatment based on subjective report. Logistic regression analyses adjusting for sociodemographic factors indicated patients in the intervention arm were 3.17 times more likely to attend initial consultation, compared to those in the control arm. Adjusted models revealed no significant differences between the two arms regarding adherence to OSA evaluation or treatment. The intervention was successful in promoting importance of sleep consultation and evaluation of OSA among blacks, while there was no significant group difference in laboratory-based evaluation and treatment adherence rates. It seems that the fundamental barrier to OSA care in that population may be the importance of seeking OSA care.

  15. Relationship of the area measurement of the large endolymphatic duct and sac syndrome as well as the clinical symptoms with CT and MR imaging results

    Energy Technology Data Exchange (ETDEWEB)

    Park, Ji Sang; Hong, Hyun Sook; Lee, Jong Sea; Kim, Dae Ho; Lee, Hae Kyung; Yi, Beom Ha; Cha, Jang Gyu; Park, Seong Jin; Kim, Shi Chan [Soonchunhyang University Bucheon Hospital, Bucheon (Korea, Republic of)

    2008-08-15

    To evaluate the CT and MRI findings of the large endolymphatic duct or sac syndrome (LEDS) and its associated anomalies, with clinical features. We retrospectively reviewed the MR and CT images of 52 ears obtained from 26 patients with LEDS. We reviewed the clinical findings, audiology testing, and treatment results. The degree of hearing loss was classified from normal to profound, based on pure tone audiometry. The largest areas were measured at each endolymphatic duct and analyzed to determine whether a correlation exists with the degree of hearing loss. We also analyzed the differences in measurements between CT and MRI findings. All 26 patients had some degree of sensorineural hearing loss, which resulted in 18 ears to undergo a cochlear implantation. One patient was diagnosed with Cornelia de Lange syndrome. Five patients had a sudden hearing loss onset. Ten ears had incomplete cochlear partitions, whereas 28 ears had enlarged vestibules. All patients had severe to profound hearing loss. We found no statistical correlation between the size of the largest area of the endolymphatic duct and the degree of hearing loss. The mean area of the endolymphatic ducts, as per an MRI examination, revealed slightly greater areas than the CT findings, although the differences were not significant. Enlarged vestibules and incomplete partitions of the cochlea were common anomalies associated with LEDS. We found no statistical correlation between the largest area of the endolymphatic duct or sac with the degree of hearing loss.

  16. Serum feline-specific pancreatic lipase immunoreactivity concentrations and abdominal ultrasonographic findings in cats with trauma resulting from high-rise syndrome.

    Science.gov (United States)

    Zimmermann, Elke; Hittmair, Katharina M; Suchodolski, Jan S; Steiner, Jörg M; Tichy, Alexander; Dupré, Gilles

    2013-05-01

    To evaluate serum feline-specific pancreatic lipase immunoreactivity (fPLI) concentrations and abdominal ultrasonographic findings in cats with trauma resulting from high-rise syndrome. Prospective case series. Animals-34 client-owned cats. From cats evaluated because of high-rise syndrome between March and October 2009, a blood sample was obtained for measurement of serum fPLI concentration within 12 hours after the fall and at 24, 48, and 72 hours after the first blood collection. Pancreatitis was diagnosed in cats with an fPLI concentration > 5.4 μg/L. Each cat had abdominal ultrasonography performed twice 48 hours apart, and pancreatic trauma was assessed via detection of pancreatic enlargement, hypoechoic or heteroechoic pancreatic parenchyma, hyperechoic mesentery, and peritoneal effusion. Cats were assigned 1 point for each abnormality present, and a cumulative score ≥ 3 was considered suggestive of traumatic pancreatitis. Traumatic pancreatitis was diagnosed in 9 and 8 cats on the basis of serum fPLI concentration and ultrasonographic findings, respectively. For cats with pancreatitis, fPLI concentration was significantly higher at 12 and 24 hours after the fall than at 48 and 72 hours after the fall, and serum fPLI concentration decreased as time after the fall increased. Significant agreement existed between the use of serum fPLI concentration and abdominal ultrasonography for the diagnosis of traumatic pancreatitis. Cats with high-rise syndrome often had serum fPLI concentrations > 5.4 μg/L within 12 hours after the fall, and concurrent evaluation of those cats via abdominal ultrasonography twice, 48 hours apart, improved detection of traumatic pancreatitis.

  17. Functional digestive symptoms and quality of life in patients with Ehlers-Danlos syndromes: results of a national cohort study on 134 patients.

    Directory of Open Access Journals (Sweden)

    Jean-David Zeitoun

    Full Text Available BACKGROUND AND OBJECTIVES: Ehlers-Danlos syndromes (EDS are a heterogeneous group of heritable connective tissue disorders. Gastrointestinal manifestations in EDS have been described but their frequency, nature and impact are poorly known. We aimed to assess digestive features in a national cohort of EDS patients. METHODS: A questionnaire has been sent to 212 EDS patients through the French patient support group, all of which had been formally diagnosed according to the Villefranche criteria. The questionnaire included questions about digestive functional symptoms, the GIQLI (Gastrointestinal Quality of Life Index, KESS scoring system and the Rome III criteria. RESULTS: Overall, 135 patients (64% response rate completed the questionnaire and 134 were analyzable (123 women; 91%. Mean age and Body Mass Index were respectively 35±14.7 years and 24.3±6.1 kg/m(2. The most common EDS subtype was hypermobility form (n=108; 80.6%. GIQLI and KESS median values were respectively 63.5 (27-117 and 19 [13.5-22]. Eighty four percent of patients had functional bowel disorders (FBD according to the Rome III criteria. An irritable bowel syndrome according to the same criteria was observed in 64 patients (48% and 48 patients (36% reported functional constipation. A gastro-esophageal reflux disease (GERD was reported in 90 patients (68.7%, significantly associated with a poorer GIQLI (60.5±16.8 versus 75.9±20.3; p<0.0001. GIQLI was also negatively impacted by the presence of an irritable bowel syndrome or functional constipation (p=0.007. There was a significant correlation between FBD and GERD. CONCLUSIONS: Natural frequency of gastrointestinal manifestations in EDS seems higher than previously assessed. FBD and GERD are very common in our study population, the largest ever published until now. Their impact is herein shown to be important. A systematic clinical assessment of digestive features should be recommended in EDS.

  18. Uric Acid Is a Risk Indicator for Metabolic Syndrome-related Colorectal Adenoma: Results in a Korean Population Receiving Screening Colonoscopy.

    Science.gov (United States)

    Kim, Hyo Jin; Kim, Jee Eun; Jung, Ji Hye; Kim, Eun Ran; Hong, Sung Noh; Chang, Dong Kyung; Son, Hee Jung; Rhee, Poong Lyul; Kim, Jae J; Kim, Young Ho

    2015-10-01

    An association between serum uric acid and cancer risk has been noted over the past few decades. There is ongoing debate about whether hyperuricemia represents an independent risk factor for colorectal neoplasm. We investigated the association between serum uric acid and prevalence of colorectal adenoma considering numerous confounding factors. A cross-sectional study was performed with individuals who underwent a routine health check-up examination, including a screening colonoscopy and blood chemistry. The association between serum uric acid and prevalence of colorectal adenoma was estimated from the results of a logistic regression analysis. Of the 1,066 participants, 402 had colorectal adenoma (37.7%). In univariate models, the prevalence of colorectal adenoma was higher in participants in the fourth quartile uric acid level, compared to those in the first quartile uric acid level (OR, 1.67; 95% CI, 1.17-2.42; p=0.004). However, no significant association was detected between serum uric acid and prevalence of colorectal adenoma in multiple logistic regression analysis. A number of metabolic syndrome components exhibited a strong association with the prevalence of colorectal adenoma in the multivariate model (OR, 3.46 for highest vs. lowest; 95% CI, 1.30-9.20; p=0.021). Moreover, serum uric acid was strongly associated with metabolic syndrome-associated variables, including waist circumference, fasting blood glucose, systolic blood pressure, diastolic blood pressure, triglyceride, and high-density lipoprotein. Uric acid is not an independent risk factor for colorectal adenoma but is a risk indicator for metabolic syndrome-related colorectal adenoma.

  19. Skeletal and dermatological manifestations of the nevoid basal cell carcinoma syndrome (Gorlin-Goltz syndrome). Results of 8 patients in 12 years; Skelettale und kutane Charakteristika des naevoiden Basalzellkarzinomsyndroms (Gorlin-Goltz-Syndrom) Ergebnisse von 8 Patienten aus 12 Jahren. Ergebnisse von 8 Patienten aus 12 Jahren

    Energy Technology Data Exchange (ETDEWEB)

    Rupprecht, M.; Barvencik, F.; Amling, M.; Pogoda, P. [Universitaetsklinikum Hamburg-Eppendorf (Germany). Klinik und Poliklinik fuer Unfall-, Hand- und Wiederherstellungschirurgie; Universitaetsklinikum Hamburg-Eppendorf (Germany). Zentrum fuer Biomechanik und Skelettbiologie; Mensing, C.H. [Asklepios Klinik St. Georg, Hamburg (Germany). Eduard-Arning-Klinik fuer Dermatologie und Allergologie; Ittrich, H. [Universitaetsklinikum Hamburg-Eppendorf (Germany). Klinik fuer Diagnostische und Interventionelle Radiologie; Heiland, M. [Universitaetsklinikum Hamburg-Eppendorf (Germany). Klinik und Poliklinik fuer Zahn-, Mund-, Kiefer- und Gesichtschirurgie; Rueger, J.M. [Universitaetsklinikum Hamburg-Eppendorf (Germany). Klinik und Poliklinik fuer Unfall-, Hand- und Wiederherstellungschirurgie

    2007-06-15

    Purpose: In 1960 Gorlin and Goltz defined the nevoid basal cell carcinoma syndrome (NBCCS, Gorlin-Goltz Syndrome) as a syndrome comprising multiple basal cell carcinoma, odontogenic keratocysts, and skeletal anomalies. NBCCS is an autosomal dominantly inherited disease with an estimated prevalence of 1:150 000 and diagnosis of this syndrome is often an accidental finding of radiological investigations. The purpose of this study was to report the varied radiological and dermatological manifestations of our patients affected with NBCCS and to present this rare syndrome as a differential diagnosis of skeletal anomalies. Materials and Methods: Between 1994 and 2005 the demographic, clinical, radiological and histological data of 8 patients with NBCCS were retrospectively analyzed. Nevoid basal cell carcinoma syndrome was diagnosed in the event of two major or one major and two minor criteria. The major criteria are more than 2 basal cell carcinoma, odontogenic keratocysts, three or more palmar pits, and calcification of the falx cerebri. Results: Between 1994 and 2005 8 patients (3 females and 5 males) with NBCCS were treated in our departments. The average age at the time of diagnosis of NBCCS was 49.9 years. All patients had a minimum of two major criteria. The major criteria with the most frequency were the basal cell carcinoma (6 patients) and the odontogenic keratocysts (5 patients), followed by the calcification of the falx cerebri and palmoplantar pits (4 patients). There was no gender-related or age-related predilection and only one patient was affected with pain in his fingers which radiologically correlated to small cystic bone lesions (''flame-shaped lucencies''). (orig.)

  20. A de novo splice site mutation in EHMT1 resulting in Kleefstra syndrome with pharmacogenomics screening and behavior therapy for regressive behaviors.

    Science.gov (United States)

    Mitra, Amit Kumar; Dodge, Jessica; Van Ness, Jody; Sokeye, Israel; Van Ness, Brian

    2017-03-01

    Kleefstra syndrome (KS) is a rare autosomal dominant developmental disability, caused by microdeletions or intragenic mutations within the epigenetic regulator gene EHMT1 (euchromatic histone lysine N-methyltransferase 1). In addition to common features of autism, young adult regressive behaviors have been reported. However, the genetic downstream effects of the reported deletions or mutations on KS phenotype have not yet been completely explored. While genetic backgrounds affecting drug metabolism can have a profound effect on therapeutic interventions, pharmacogenomic variations are seldom considered in directing psychotropic therapies. In this report, we used next-generation sequencing (exome sequencing and high-throughput RNA sequencing) in a patient and his parents to identify causative genetic variants followed by pharmacogenomics-guided clinical decision-making for making positive changes toward his treatment strategies. The patient had an early autism diagnosis and showed significant regressive behaviors and physical aberrations at age 23. Exome sequencing identified a novel, de novo splice site variant NM_024757.4: c.2750-1G>T in EHMT1, a candidate gene for Kleefstra syndrome, in the patient that results in exon skipping and downstream frameshift and termination. Gene expression results from the patient showed, when compared to his parents, there was a significant decreased expression of several reported gene variants associated with autism risk. Further, using a pharmacogenomics genotyping panel, we discovered that the patient had the CYP2D6 nonfunctioning variant genotype *4/*4 that results in very low metabolic activity on a number of psychotropic drugs, including fluvoxamine which he was prescribed. As reported here, a change in psychotropic drugs and intense behavior therapies resulted in a significant reversal of the regressive behaviors and physical aberrations. These results demonstrate an individualized approach that integrated genetic information

  1. Reporting Clinical End Points and Safety Events in an Acute Coronary Syndrome Trial: Results With Integrated Collection.

    Science.gov (United States)

    Guimarães, Patrícia O; Lopes, Renato D; Stevens, Susanna R; Zimerman, André; Wruck, Lisa; James, Stefan K; Haque, Ghazala; Giraldez, Roberto Rocha C V; Alexander, John H; Alexander, Karen P

    2017-04-24

    End points and adverse events (AEs) are collected separately in clinical trials, yet regulatory requirements for serious AE reporting vary across regions, so classifying end points according to seriousness criteria can be useful in global trials. In the Apixaban for Prevention of Acute Ischemic Events 2 (APPRAISE-2) trial, patients with a recent acute coronary syndrome were randomized to apixaban or placebo for the prevention of recurrent ischemic events. Suspected end points (myocardial infarction, stroke, or bleeding) were adjudicated by an independent clinical events classification committee. Safety criteria were collected for suspected end points and AEs. Patient-level event rates per 100 patient-days of follow-up, modeled using Poisson regression, explored the influence of region and patient characteristics on event reporting. Overall, 13 909 events were reported by 858 sites in 39 countries; 8.4% (n=1166) were suspected end points, and 91.6% (n=12 743) were AEs. Overall, 66.0% of suspected end points were confirmed by the clinical events classification committee. Most clinical events classification committee-confirmed end points met criteria to be classified as serious (94.0%); many clinical events classification committee-negated end points also did (63.2%), but fewer AEs met seriousness criteria (17.9%). The most common seriousness criterion was hospitalization (79.9%, n=2594). Region explained 28.7% of end point- and 26.4% of serious AE-reporting variation, and patient characteristics explained an additional 25.4% of end point and 13.4% of serious AE variation. Nonserious AE-reporting variation was not explained by adjustment. An integrated collection of end points and serious AEs is feasible in a multinational trial and illustrates the shared characteristics of events. Tailoring event collection to fit the phase and purpose of the trial is achievable and informative. URL: http://www.clinicaltrials.gov. Unique identifier: NCT00831441. © 2017 The

  2. Impact of baseline physical activity and diet behavior on metabolic syndrome in a pharmaceutical trial: results from NAVIGATOR.

    Science.gov (United States)

    Huffman, Kim M; Sun, Jie-Lena; Thomas, Laine; Bales, Connie W; Califf, Robert M; Yates, Thomas; Davies, Melanie J; Holman, Rury R; McMurray, John J V; Bethel, M Angelyn; Tuomilehto, Jaakko; Haffner, Steven M; Kraus, William E

    2014-04-01

    The cardiometabolic risk cluster metabolic syndrome (MS) includes ≥3 of elevated fasting glucose, hypertension, elevated triglycerides, reduced high-density lipoprotein cholesterol (HDL-c), and increased waist circumference. Each can be affected by physical activity and diet. Our objective was to determine whether determine whether baseline physical activity and/or diet behavior impact MS in the course of a large pharmaceutical trial. This was an observational study from NAVIGATOR, a double-blind, randomized (nateglinide, valsartan, both, or placebo), controlled trial between 2002 and 2004. We studied data from persons (n=9306) with impaired glucose tolerance and cardiovascular disease (CVD) or CVD risk factors; 7118 with pedometer data were included in this analysis. Physical activity was assessed with 7-day pedometer records; diet behavior was self-reported on a 6-item survey. An MS score (MSSc) was calculated using the sum of each MS component, centered around the Adult Treatment Panel III threshold, and standardized according to sample standard deviation. Excepting HDL-c, assessed at baseline and year 3, MS components were assessed yearly. Follow-up averaged 6 years. For every 2000-step increase in average daily steps, there was an associated reduction in average MSSc of 0.29 (95% CI (-)0.33 to (-)0.25). For each diet behavior endorsed, there was an associated reduction in average MSSc of 0.05 (95% CI (-)0.08 to (-)0.01). Accounting for the effects of pedometer steps and diet behavior together had minimal impact on parameter estimates with no significant interaction. Relations were independent of age, sex, race, region, smoking, family history of diabetes, and use of nateglinide, valsartan, aspirin, antihypertensive, and lipid-lowering agent. Baseline physical activity and diet behavior were associated independently with reductions in MSSc such that increased attention to these lifestyle elements provides cardiometabolic benefits. Thus, given the potential to

  3. Therapy of alcohol withdrawal syndrome in intensive care unit patients following trauma: results of a prospective, randomized trial.

    Science.gov (United States)

    Spies, C D; Dubisz, N; Neumann, T; Blum, S; Müller, C; Rommelspacher, H; Brummer, G; Specht, M; Sanft, C; Hannemann, L; Striebel, H W; Schaffartzik, W

    1996-03-01

    To assess the effect of three different alcohol withdrawal therapy regimens in traumatized chronic alcoholic patients with respect to the duration of mechanical ventilation and the frequency of pneumonia and cardiac disorders during their intensive care unit (ICU) stay. A prospective, randomized, blinded, controlled clinical trial. A university hospital ICU. Multiple-injured alcohol-dependent patients (n=180) transferred to the ICU after admission to the emergency room and operative management. A total of 180 patients were included in the study; however, 21 patients were excluded from the study after assignment. Patients who developed actual alcohol withdrawal syndrome were randomized to one of the following treatment regimens: flunitrazepam/clonidine (n=54); chlormethiazole/haloperidol (n=50); or flunitrazepam/haloperidol (n=55). The need for administration of medication was determined, using a validated measure of the severity of alcohol withdrawal (Revised Clinical Institute Withdrawal Assessment for Alcohol Scale). The duration of mechanical ventilation and major intercurrent complications, such as pneumonia, sepsis, cardiac disorders, bleeding disorders, and death, were documented. Patients did not differ significantly between groups regarding age, Revised Trauma and Injury Severity Score and Acute Physiology and Chronic Health Evaluation II score on admission. In all except four patients in the flunitrazepam/clonidine group, who continued to hallucinate, the Revised Clinical Institute Withdrawal Assessment for Alcohol Scale decreased to <20 after initiation of therapy. ICU stay did not significantly differ between groups (p=.1669). However, mechanical ventilation was significantly prolonged in the chlormethiazole/haloperidol group (p=.0315) due to an increased frequency of pneumonia (p=.0414). Cardiac complications were significantly (p=.0047) increased in the flunitrazepam/clonidine group. There was some advantage in the flunitrazepam/clonidine regimen with

  4. The Erlangen Dose Optimization trial for low-dose radiotherapy of benign painful elbow syndrome. Long-term results

    Energy Technology Data Exchange (ETDEWEB)

    Ott, O.J.; Hertel, S.; Gaipl, U.S.; Frey, B.; Schmidt, M.; Fietkau, R. [University Hospital Erlangen, Department of Radiation Oncology, Erlangen (Germany)

    2014-03-15

    To evaluate the long-term efficacy of pain reduction by two dose fractionation schedules used for low-dose radiotherapy of painful elbow syndrome. Between February 2006 and February 2010, 199 evaluable patients were recruited for this prospective trial. All patients received low-dose orthovoltage radiotherapy. One course consisted of 6 fractions in 3 weeks. In the case of insufficient pain remission after 6 weeks, a second course was administered. Patients were randomly assigned to one of two groups to receive single doses of either 0.5 or 1.0 Gy. Endpoint was pain reduction. Pain was measured before radiotherapy, as well as immediately after (early response), 6 weeks after (delayed response) and approximately 3 years after (long-term response) completion of radiotherapy using a questionnaire-based visual analogue scale (VAS) and a comprehensive pain score (CPS). Median follow-up was 35 months (range 9-57 months). The overall early, delayed and long-term response rates for all patients were 80, 90 and 94 %, respectively. The mean VAS scores before treatment and those for early, delayed and long-term response in the 0.5- and 1.0-Gy groups were 59.6 ± 20.2 and 55.7 ± 18.0 (p = 0.46); 32.1 ± 24.5 and 34.4 ± 22.5 (p = 0.26); 27.0 ± 27.7 and 23.5 ± 21.6 (p = 0.82) and 10.7 ± 15.0 and 21.5 ± 26.9 (p = 0.12), respectively. The mean CPS values before treatment and those for early, delayed and long-term response were 8.7 ± 2.9 and 8.1 ± 3.1 (p = 0.21); 4.5 ± 3.2 and 5.0 ± 3.4 (p = 0.51); 3.9 ± 3.6 and 2.8 ± 2.8 (p = 0.19) and 1.5 ± 2.3 and 2.4 ± 3.5 (p = 0.27), respectively. No significant differences in the quality of the long-term response were found between the 0.5- and 1.0-Gy arms (p = 0.28). Low-dose radiotherapy is an effective treatment for the management of benign painful elbow syndrome. For radiation protection reasons, the dose for a radiotherapy series should not exceed 3.0 Gy. (orig.) [German] Untersuchung der

  5. No evidence of long-term benefits of arthroscopicacromioplasty in the treatment of shoulder impingement syndrome: Five-year results of a randomised controlled trial.

    Science.gov (United States)

    Ketola, S; Lehtinen, J; Rousi, T; Nissinen, M; Huhtala, H; Konttinen, Y T; Arnala, I

    2013-01-01

    To report the five-year results of a randomised controlled trial examining the effectiveness of arthroscopic acromioplasty in the treatment of stage II shoulder impingement syndrome. A total of 140 patients were randomly divided into two groups: 1) supervised exercise programme (n = 70, exercise group); and 2) arthroscopic acromioplasty followed by a similar exercise programme (n = 70, combined treatment group). The main outcome measure was self-reported pain as measured on a visual analogue scale. At the five-year assessment a total of 109 patients were examined (52 in the exercise group and 57 in the combined treatment group). There was a significant decrease in mean self-reported pain on the VAS between baseline and the five-year follow-up in both the exercise group (from 6.5 (1 to 10) to 2.2 (0 to 8); p Shoulder Disability Questionnaire and reported painful days). An intention-to-treat analysis showed statistically significant improvements in both groups at five years compared with baseline. Further, improvement continued between the two- and five-year timepoints. No statistically significant differences were found in the patient-centred primary and secondary parameters between the two treatment groups. Differences in the patient-centred primary and secondary parameters between the two treatment groups were not statistically significant, suggesting that acromioplasty is not cost-effective. Structured exercise treatment seems to be the treatment of choice for shoulder impingement syndrome.

  6. Dual-portal endoscopic release of the transverse ligament in carpal tunnel syndrome: results of 411 procedures with special reference to technique, efficacy, and complications.

    Science.gov (United States)

    Oertel, Joachim; Schroeder, Henry W S; Gaab, Michael R

    2006-08-01

    Endoscopic release of carpal tunnel syndrome is still under debate. The main advantages of the technique are considered to be minor postoperative pain and a more rapid postoperative recovery. Disadvantages are thought to be the impossibility of a direct median nerve neurolysis and a higher surgical complication rate, including injury to the median nerve. The results of 411 consecutive endoscopic carpal tunnel procedures performed between March 1995 and September 2004 are presented. All patients were prospectively followed. In the present series, a success rate of 98.05% was observed. There was no permanent morbidity and, in particular, there was no injury of the median nerve. In four (0.97%) patients, the preoperative symptoms did not improve. In two (0.49%) of these patients, an incomplete release of the carpal ligament occurred. In another four patients (0.97%), a switch to open surgery was required. The present data prove that the endoscopic technique is a safe and reliable technique for carpal tunnel surgery. The data do not support the current discussion of a higher risk of median nerve injury with endoscopic carpal tunnel surgery. Thus, for our group, the endoscopic technique represents the therapy of choice for the primary idiopathic carpal tunnel syndrome.

  7. Risk of Dumping Syndrome after Sleeve Gastrectomy and Roux-en-Y Gastric Bypass: Early Results of a Multicentre Prospective Study.

    Science.gov (United States)

    Ramadan, M; Loureiro, M; Laughlan, K; Caiazzo, R; Iannelli, A; Brunaud, L; Czernichow, S; Nedelcu, M; Nocca, D

    2016-01-01

    Background. Bariatric surgery is an important field of surgery. An important complication of bariatric surgery is dumping syndrome (DS). Aims. To evaluate the incidence of DS in patients undergoing bariatric surgery. Methods. 541 patients included from 5 nutrition and bariatric centers in France underwent either LSG or LRYGB. They were evaluated at 1 month (M1) and 6 months (M6) postoperatively by an interview and completion of a dumping syndrome questionnaire. Results. 268 patients underwent LSG (Group A) and 273 underwent LRYGB. From the LRYGB patients 229 had mechanical gastrojejunoanal anastomosis with 30 mm linear stapler (Group B) and 44 had manual (hand sewn) 15 mm gastrojejunal anastomosis (Group C). Overall incidence of DS was 8.5% at M1 and M6. In LSG group (Group A), only 4 patients (1.49%) reported episodes of DS at M1 and 3 (1.12%) at M6. In Group B, 41 patients (17.90%) reported episodes of DS at M1 and 43 (18.78%) at M6. Group C experienced one case (2.27%) of DS at M1 and none (0%) at M6. Conclusions. Patients undergoing LRYGB, especially with larger gastrojejunal anastomosis, are more prone to developing DS following surgery than patients undergoing LSG or LRYGB with calibrated manual anastomosis.

  8. Urban and rural variation in clustering of metabolic syndrome components in the Thai population: results from the fourth National Health Examination Survey 2009

    Directory of Open Access Journals (Sweden)

    Aekplakorn Wichai

    2011-11-01

    Full Text Available Abstract Background Information on the distribution of Metabolic syndrome (MetS and its combinations by urban/rural areas in lower-middle income countries has been limited. It is not clear how the various combinations of MetS components varied by urban/rural population and if particular combinations of MetS are more common. This study aimed to estimate the prevalence of MetS and combinations of MetS components according to sex and urban/rural areas from a nationally representative sample of Thai adults. Methods Data from the fourth National Health Examination Survey of 19,256 Thai adults aged 20 years and over were analyzed. MetS was defined using the harmonized criteria of six international expert groups with Asian-specific cut-point for waist circumference. Results The prevalence of MetS was 23.2% among adults aged ≥ 20 years (19.5% in men and 26.8% in women. Among men, the prevalence of MetS in urban was higher than those in rural areas (23.1% vs 17.9%, P P Conclusion Metabolic syndrome affects both urban and rural population with different pattern of MetS combinations. Dyslipidemia and obesity were the most common components among women in rural areas, hence, interventions to prevent and control these factors should be strengthened.

  9. Cri du chat syndrome

    Science.gov (United States)

    ... this page: //medlineplus.gov/ency/article/001593.htm Cri du chat syndrome To use the sharing features on this page, please enable JavaScript. Cri du chat syndrome is a group of symptoms that result from ...

  10. Cushing syndrome in pediatrics.

    Science.gov (United States)

    Stratakis, Constantine A

    2012-12-01

    Cushing syndrome is characterized by truncal obesity, growth deceleration, skin changes, muscle weakness, and hypertension. Cushing syndrome in childhood usually results from the exogenous administration of glucocorticoids. This article presents the causes and discusses the treatment of endogenous Cushing syndrome. It also discusses the clinical and molecular genetics of inherited forms of this syndrome. Cushing syndrome needs to be diagnosed and treated properly when first recognized; improper treatment can turn this otherwise completely curable disorder into a chronic ailment. Barriers to optimal care of a pediatric patient with Cushing syndrome are discussed. Published by Elsevier Inc.

  11. Irbesartan and lipoic acid improve endothelial function and reduce markers of inflammation in the metabolic syndrome: results of the Irbesartan and Lipoic Acid in Endothelial Dysfunction (ISLAND) study

    National Research Council Canada - National Science Library

    Sola, Srikanth; Mir, Muhammad Q S; Cheema, Faiz A; Khan-Merchant, Nadya; Menon, Rekha G; Parthasarathy, Sampath; Khan, Bobby V

    2005-01-01

    .... We evaluated the ability of irbesartan, an angiotensin receptor blocker, and lipoic acid, an antioxidant, to affect endothelial function and inflammation in patients with the metabolic syndrome...

  12. Percutaneous tibial nerve stimulation versus electrical stimulation with pelvic floor muscle training for overactive bladder syndrome in women: results of a randomized controlled study

    Directory of Open Access Journals (Sweden)

    Carlo Vecchioli Scaldazza

    Full Text Available ABSTRACT Introduction This study compared percutaneous tibial nerve stimulation (PTNS versus electrical stimulation with pelvic floor muscle training (ES + PFMT in women with overactive bladder syndrome (OAB. Materials and Methods 60 women with OAB were enrolled. Patients were randomized into two groups. In group A, women underwent ES with PFMT, in group B women underwent PTNS. Results A statistically significant reduction in the number of daily micturitions, episodes of nocturia and urge incontinence was found in the two groups but the difference was more substantial in women treated with PTNS; voided volume increased in both groups. Quality of life improved in both groups, whereas patient perception of urgency improved only in women treated with PTNS. Global impression of improvement revealed a greater satisfaction in patients treated with PTNS. Conclusion This study demonstrates the effectiveness of PTNS and ES with PFMT in women with OAB, but greater improvements were found with PTNS.

  13. Long-term results of vaginal construction with the use of Frank dilation and a peritoneal graft (Davydov procedure) in patients with Mayer-Rokitansky-Küster syndrome.

    Science.gov (United States)

    Willemsen, Wim N P; Kluivers, Kirsten B

    2015-01-01

    To describe long-term outcomes after nonsurgical and surgical treatment of vaginal agenesis in a cohort of girls and women with Mayer-Rokitansky-Küster (MRK) syndrome. Retrospective cohort study using a standardized case record form. University hospital. All girls and women with vaginal agenesis due to MRK syndrome, presenting during a 40-year period (1962-2012). Frank dilation and surgical treatment (with the use of a peritoneal graft, i.e., the Davydov method) for vaginal agenesis. Functional vaginal depth and complications. Two hundred fifty-four women with MRK visited the department. Urinary tract anomalies were found in 72 patients (31%), and other congenital anomalies in 59 (32%) of the patients with available data. One hundred sixty women were treated for vaginal agenesis. The mean follow-up time was 90 months (range 0-560 months). Sixty-eight patients had surgical treatment for vaginal agenesis with the use of a peritoneal graft (Davydov method) and reached a functional depth of the vagina of 7.8 cm (range 1-13 cm) Surgical therapy preceded by nonsurgical Frank dilation and/or attempted sexual intercourse did not result in more functional depth of the neovagina. The formation of granulation tissue (23%) and the tendency to obliterate (12%) were the major problems when using a peritoneal graft. Long-term results of both Frank dilation and Davydov neovagina procedure in experienced hands were good. The use of a peritoneal graft may be regarded as a good alternative to other widely used neovagina techniques using a graft, such as split-thickness skin graft or sigmoid neovagina. Copyright © 2015 American Society for Reproductive Medicine. Published by Elsevier Inc. All rights reserved.

  14. Targeting of the Plzf Gene in the Rat by Transcription Activator-Like Effector Nuclease Results in Caudal Regression Syndrome in Spontaneously Hypertensive Rats.

    Directory of Open Access Journals (Sweden)

    František Liška

    Full Text Available Recently, it has been found that spontaneous mutation Lx (polydactyly-luxate syndrome in the rat is determined by deletion of a conserved intronic sequence of the Plzf (Promyelocytic leukemia zinc finger protein gene. In addition, Plzf is a prominent candidate gene for quantitative trait loci (QTLs associated with cardiac hypertrophy and fibrosis in the spontaneously hypertensive rat (SHR. In the current study, we tested the effects of Plzf gene targeting in the SHR using TALENs (transcription activator-like effector nucleases. SHR ova were microinjected with constructs pTAL438/439 coding for a sequence-specific endonuclease that binds to target sequence in the first coding exon of the Plzf gene. Out of 43 animals born after microinjection, we detected a single male founder. Sequence analysis revealed a deletion of G that resulted in frame shift mutation starting in codon 31 and causing a premature stop codon at position of amino acid 58. The Plzftm1Ipcv allele is semi-lethal since approximately 95% of newborn homozygous animals died perinatally. All homozygous animals exhibited manifestations of a caudal regression syndrome including tail anomalies and serious size reduction and deformities of long bones, and oligo- or polydactyly on the hindlimbs. The heterozygous animals only exhibited the tail anomalies. Impaired development of the urinary tract was also revealed: one homozygous and one heterozygous rat exhibited a vesico-ureteric reflux with enormous dilatation of ureters and renal pelvis. In the homozygote, this was combined with a hypoplastic kidney. These results provide evidence for the important role of Plzf gene during development of the caudal part of a body-column vertebrae, hindlimbs and urinary system in the rat.

  15. Surgical management of congenital intrahepatic bile duct dilatation, Caroli's disease and syndrome: long-term results of the French Association of Surgery Multicenter Study.

    Science.gov (United States)

    Mabrut, Jean-Yves; Kianmanesh, Reza; Nuzzo, Gennaro; Castaing, Denis; Boudjema, Karim; Létoublon, Christian; Adham, Mustapha; Ducerf, Christian; Pruvot, François-René; Meurisse, Nicolas; Cherqui, Daniel; Azoulay, Daniel; Capussotti, Lorenzo; Lerut, Jan; Reding, Raymond; Mentha, Gilles; Roux, Adeline; Gigot, Jean-François

    2013-11-01

    To assess clinical presentation and long-term results of surgical management of congenital intrahepatic bile duct dilatation (IHBDD) (Caroli disease and syndrome) in a multicenter setting. Congenital IHBDD predisposes to biliary stasis, resulting in intrahepatic lithiasis, septic complications, and cholangiocarcinoma. Although liver resection (LR) is considered to be the treatment of choice for unilobar disease extent into the liver, the management of bilobar disease and/or associated congenital hepatic fibrosis remains challenging. From 1978 to 2011, a total of 155 patients (median age: 55.7 years) were enrolled from 26 centers. Bilobar disease, Caroli syndrome, liver atrophy, and intrahepatic stones were encountered in 31.0%, 19.4%, 27.7%, and 48.4% of patients, respectively. A complete resection of congenital intrahepatic bile ducts was achieved in 90.5% of the 148 patients who underwent surgery. Postoperative mortality was nil after anatomical LR (n = 111) and 10.7% after liver transplantation (LT) (n = 28). Grade 3 or higher postoperative morbidity occurred in 15.3% of patients after LR and 39.3% after LT. After a median follow-up of 35 months, the 5-year overall survival rate was 88.5% (88.7% after LT), and the Mayo Clinic score was considered as excellent or good in 86.0% of patients. The 1-year survival rate was 33.3% for the 8 patients (5.2%) who presented with coexistent cholangiocarcinoma. LR for unilobar and LT for diffuse bilobar congenital IHBDD complicated with cholangitis and/or portal hypertension achieved excellent long-term patient outcomes and survival. Because of the bad prognosis of cholangiocarcinoma and the sizeable morbidity-mortality after LT, timely indication for surgical treatment is of major importance.

  16. Universal screening for Lynch syndrome among patients with colorectal cancer: patient perspectives on screening and sharing results with at-risk relatives.

    Science.gov (United States)

    Hunter, Jessica Ezzell; Arnold, Kathleen A; Cook, Jennifer E; Zepp, Jamilyn; Gilmore, Marian J; Rope, Alan F; Davis, James V; Bergen, Kellene M; Esterberg, Elizabeth; Muessig, Kristin R; Peterson, Susan K; Syngal, Sapna; Acheson, Louise; Wiesner, Georgia; Reiss, Jacob; Goddard, Katrina A B

    2017-07-01

    Universal screening for Lynch syndrome (LS) among all cases of colorectal cancer (CRC) could increase the diagnosis of LS and reduce morbidity and mortality of LS-associated cancers. Given universal screening includes all patients, irrespective of high risk factors such early age at onset or family history of CRC, it is important to understand perspectives of all patients and not just those at high risk. As part of a study to assess the feasibility and implementation of universal screening, 189 patients newly diagnosed with CRC were surveyed about their interest in screening for LS and communication of results with at-risk family members. Overall, participants responded positively regarding screening for LS, with most wanting to know their genetic risks in general (86%) and risk of hereditary CRC (93%). Prior to receiving screening results, most participants stated they intended to share their screening results with parents (89%), siblings (96%), and children (96%). Of the 28 participants who received a positive LS screening result, 26 (93%) reported sharing their result with at least one first-degree family member. Interest in screening for LS and communication of screening results with family members was not associated with high risk factors. This study indicates that patients are interested in being screened for LS and that sharing information on the risk of LS with at-risk family members is not a significant barrier. These findings provide novel insight into patient perspectives about screening for LS and can guide successful implementation of universal screening programs.

  17. Cushing syndrome

    Science.gov (United States)

    Hypercortisolism; Cortisol excess; Glucocorticoid excess - Cushing syndrome ... The most common cause of Cushing syndrome is taking too much ... called exogenous Cushing syndrome . Prednisone, dexamethasone, ...

  18. Cardio-renal syndrome

    OpenAIRE

    Joseph Gnanaraj; Jai Radhakrishnan

    2016-01-01

    Cardio-renal syndrome is a commonly encountered problem in clinical practice. Its pathogenesis is not fully understood. The purpose of this article is to highlight the interaction between the cardiovascular system and the renal system and how their interaction results in the complex syndrome of cardio-renal dysfunction. Additionally, we outline the available therapeutic strategies to manage this complex syndrome.

  19. The role of life-course socioeconomic and lifestyle factors in the intergenerational transmission of the metabolic syndrome : results from the LifeLines Cohort Study

    NARCIS (Netherlands)

    Klijs, Bart; Angelini, Viola; Mierau, Jochen O.; Smidt, Nynke

    Background: The risk of metabolic syndrome is associated between parents and offspring, but studies are inconsistent on differences by sex of parents and offspring. Our aim is to investigate to what extent metabolic syndrome present in fathers and mothers is associated with risk of metabolic

  20. Treatment for myeloid leukaemia of Down syndrome: population-based experience in the UK and results from the Medical Research Council AML 10 and AML 12 trials.

    NARCIS (Netherlands)

    Rao, A.; Hills, R.K.; Stiller, C.; Gibson, B.E.; Graaf, S.S.N. de; Hann, I.M.; O'Marcaigh, A.; Wheatley, K.; Webb, D.K.

    2006-01-01

    Down syndrome (DS) children are at an increased risk of developing myelodysplasia and acute myeloid leukaemia (AML). We retrospectively analysed the population-based data on 81 children with myeloid leukaemia of Down syndrome (ML-DS) from the UK National Registry of Childhood Tumours and experience

  1. Abatacept treatment of patients with primary Sjögren's syndrome results in a decrease of germinal centres in salivary gland tissue.

    Science.gov (United States)

    Haacke, Erlin A; van der Vegt, Bert; Meiners, Petra M; Vissink, Arjan; Spijkervet, Fred K L; Bootsma, Hendrika; Kroese, Frans G M

    2017-01-01

    The aim of this study was to assess the histopathological changes in parotid gland tissue of primary Sjögren's syndrome (pSS) patients treated with abatacept. In all 15 pSS patients included in the open-label Active Sjögren Abatacept Pilot (ASAP, 8 abatacept infusions) study parotid gland biopsies were taken before treatment and at 24 weeks of follow up. Biopsies were analysed for pSS-related histopathological features and placed in context of clini- cal responsiveness as assessed with EULAR Sjögren's syndrome disease activity index (ESSDAI). Abatacept treatment resulted in a decrease of germinal centres (GCs)/ mm2 (p=0.173). Number of GCs/mm2 at baseline was associated with response in the glandular domain of ESSDAI (Spearman ρ=0.644, p=0.009). Abatacept treatment did not reduce focus score, lymphoepithelial lesions, area of lymphocytic infiltrate, amount of CD21+ networks of follicular dendritic cells, and numbers of CD3+ T-cells or CD20+ B- cells. Number of IgM plasma cells/mm2 increased (p=0.041), while numbers of IgA and IgG plasma cells/mm2 were unaffected during abatacept treatment. Abatacept affects formation of GCs of pSS patients in parotid glands, which is dependent on co-stimulation of activated follicular-helper-T-cells. Herewith, local formation of (autoreactive) memory B-cells is inhibited. Presence of GCs at baseline predicts responsiveness to abatacept in the ESSDAI glandular domain.

  2. Health-related quality of life of ticagrelor versus clopidogrel in patients with acute coronary syndromes-results from the PLATO trial.

    Science.gov (United States)

    Levin, Lars-Åke; Wallentin, Lars; Bernfort, Lars; Andersson, David; Storey, Robert F; Bergström, Gina; Lamm, Carl-Johan; Janzon, Magnus; Kaul, Padma

    2013-06-01

    The purpose of this study was to compare the effects of ticagrelor versus clopidogrel on health-related quality of life in the PLATelet inhibition and patient Outcomes (PLATO) trial. The PLATO trial showed that ticagrelor was superior to clopidogrel for the prevention of cardiovascular death, myocardial infarction, or stroke in a broad population of patients with acute coronary syndromes. HRQOL in the PLATO study was measured at hospital discharge, 6-month visit, and end of treatment (anticipated at 12 months) by using the EuroQol five-dimensional (EQ-5D) questionnaire. All patients who had an EQ-5D questionnaire assessment at discharge from the index hospitalization (n = 15,212) were included in the study. Patients who died prior to the end-of-treatment visit were assigned an EQ-5D questionnaire value of 0. The EQ-5D questionnaire value at discharge among 7631 patients assigned to ticagrelor was 0.847 and among 7581 patients assigned to clopidogrel was 0.846 (P = 0.71). At 12 months, the mean EQ-5D questionnaire value was 0.840 for ticagrelor and 0.832 for clopidogrel (P = 0.046). Excluding patients who died resulted in mean EQ-5D questionnaire values of 0.864 among ticagrelor patients and 0.863 among clopidogrel patients (P = 0.69). In patients hospitalized with acute coronary syndromes with or without ST-segment elevation, treatment with ticagrelor was associated with a lower mortality but otherwise no difference in quality of life relative to treatment with clopidogrel. The improved survival and reduction in cardiovascular events with ticagrelor are therefore obtained with no loss in quality of life. Copyright © 2013 International Society for Pharmacoeconomics and Outcomes Research (ISPOR). Published by Elsevier Inc. All rights reserved.

  3. Association between serum uric acid and the Adult Treatment Panel III-defined metabolic syndrome: results from a single hospital database.

    Science.gov (United States)

    Rho, Young Hee; Woo, Jin-Hyun; Choi, Seong Jae; Lee, Young Ho; Ji, Jong Dae; Song, Gwan Gyu

    2008-01-01

    Hyperuricemia is known to be associated with various metabolic abnormalities of the metabolic syndrome, but its precise contribution is not well defined. We have investigated the effects of serum uric acid on the metabolic syndrome as defined by the Adult Treatment Panel (ATP) III criteria and tested its independent association. This was a cross-sectional study consisting of 1686 Korean subjects (821 men and 865 women) from a health promotion center. Clinical data and the presence of the metabolic syndrome were assessed, and serum uric acid was tested for its independent contribution to the metabolic syndrome using 2 multiple logistic regression models. The metabolic syndrome was defined by the original ATP III criteria and the modified ATP III criteria that include a reduced waist circumference. The general age-adjusted prevalence of the metabolic syndrome was 4.4% in men and 6.8% in women; hyperuricemic subjects tended to have a higher prevalence of the metabolic syndrome and more metabolic abnormalities than normouricemic subjects. The prevalence of the metabolic syndrome increased as normouricemia (2.9%) progressed to hyperuricemia (8.9%) and to gout (43.6%) in men. Multivariate analysis showed that serum uric acid was a significant factor for the development of the metabolic syndrome as defined by the original ATP III criteria only in one model for women (odds ratio, 1.51; 95% confidence interval, 1.11-2.05; P = .009). Serum uric acid is closely linked to and may even be independently associated with the metabolic syndrome as defined by the ATP III criteria, but only in women.

  4. Duane Syndrome

    Science.gov (United States)

    ... Frequently Asked Questions Español Condiciones Chinese Conditions Duane Syndrome En Español Read in Chinese What is Duane Syndrome? Duane syndrome, also called Duane retraction syndrome (DRS), ...

  5. Relationship between the Porcine Stress Syndrome gene and carcass and performance traits in F2 pigs resulting from divergent crosses

    Directory of Open Access Journals (Sweden)

    Guilherme de Oliveira Band

    2005-03-01

    Full Text Available The PSS genotypes of 596 F2 pigs produced by initial mating of Brazilian native boars commercial sows and were characterized by PCR-RFLP and their carcass and performance traits were evaluated. Among the 596 animals analyzed, 493 (82.72% were characterized as NN and 103 (17.28% as Nn. With respect to carcass traits, Nn animals presented higher (p < 0.05 right half carcass weight, left half carcass weight, loin depth and loin eye area, and lower shoulder backfat thickness, backfat thickness between last and next to last but one lumbar vertebrae and backfat thickness after last rib at 6.5 cm from the midline compared to NN animals. Nn animals also showed (p < 0.05 higher values for most of the cut yields, indicating higher cutting yields for animals carrying the n allele and lower values for bacon depth, confirming lower fat deposition in carcass. In addition, Nn animals presented (p < 0.05 lower values for the performance trait weight at 105 days of age. These results indicate that animals carrying the PSS gene generate leaner carcasses, higher cut yields, and that the effects of the gene can be observed even in divergent crosses.

  6. Relationship between the Porcine Stress Syndrome gene and pork quality traits of F2 pigs resulting from divergent crosses

    Directory of Open Access Journals (Sweden)

    Guilherme de Oliveira Band

    2005-03-01

    Full Text Available The PSS genotypes of 596 F2 pigs produced by initial mating of Brazilian commercial sows and native boars were characterized by PCR-RFLP and the pork quality traits were evaluated. Among the 596 pigs studied, 493 (82.7% were NN and 103 (17.3% were Nn. There were no differences between NN and Nn pigs in the following pork qualities: pHu (5.71 ± 0.16 vs 5.70 ± 0.11, intramuscular fat (1.55 ± 0.64% vs 1.65 ± 0.67%, shear force (5552 ± 878 g/1.2 cm vs 5507 ± 826 g/1.2 cm, lightness (44.96 ± 2.05 vs 45.01 ± 1.92, redness (0.64 ± 0.60 vs 0.79 ± 0.55, yellowness (6.62 ± 0.56 vs 6.65 ± 0.48, hue (84.28 ± 5.53 vs 83.41 ± 4.85, or chroma (6.68 ± 0.52 vs 6.73 ± 0.52. However, pork from Nn pigs had a significantly (p < 0.05 lower pH45 (6.41 ± 0.27 vs 6.51 ± 0.26 and greater drip (3.92 ± 1.90% vs 3.06 ± 1.60%, cooking (33.29 ± 2.26% vs 32.50 ± 2.54% and total (35.67 ± 2.48% vs 34.01 ± 2.58% loss compared to that of NN pigs. These results indicate that, even in divergent crosses, PSS gene carriers produce pork of poorer quality.

  7. Psychiatric Disorders From Childhood to Adulthood in 22q11.2 Deletion Syndrome: Results From the International Consortium on Brain and Behavior in 22q11.2 Deletion Syndrome

    National Research Council Canada - National Science Library

    Schneider, Maude; Debbané, Martin; Bassett, Anne S; Chow, Eva W.C; Fung, Wai Lun Alan; van den Bree, Marianne B.M; Owen, Michael; Murphy, Declan G; Murphy, Kieran C; Niarchou, Maria; Kates, Wendy R; Antshel, Kevin M; Fremont, Wanda; McDonald-McGinn, Donna M; Gur, Raquel E; Zackai, Elaine H; Vorstman, Jacob; Duijff, Sasja N; Klaassen, Petra W.J; Swillen, Ann; Gothelf, Doron; Green, Tamar; Weizman, Abraham; Van Amelsvoort, Therese; Evers, Laurens; Boot, Erik; Shashi, Vandana; Hooper, Stephen R; Bearden, Carrie E; Jalbrzikowski, Maria; Armando, Marco; Vicari, Stefano; Ousley, Opal; Campbell, Linda E; Simon, Tony J; Eliez, Stephan

    2014-01-01

    .... The authors report what is to their knowledge the first large-scale collaborative study of rates and sex distributions of psychiatric disorders from childhood to adulthood in 22q11.2 deletion syndrome...

  8. Comportamento da síndrome coronariana aguda: resultados de um registro brasileiro Acute coronary syndrome behavior: results of a Brazilian registry

    Directory of Open Access Journals (Sweden)

    Leopoldo Soares Piegas

    2013-01-01

    ão ajudar a promover um melhor planejamento e manejo do atendimento da síndrome coronariana aguda a nível público e privado.BACKGROUND: Brazil lacks published multicenter registries of acute coronary syndrome. OBJECTIVE: The Brazilian Registry of Acute Coronary Syndrome is a multicenter national study aiming at providing data on clinical aspects, management and hospital outcomes of acute coronary syndrome in our country. METHODS: A total of 23 hospitals from 14 cities, participated in this study. Eligible patients were those who came to the emergency wards with suspected acute coronary syndrome within the first 24 hours of symptom onset, associated with compatible electrocardiographic alterations and/or altered necrosis biomarkers. Follow-up lasted until hospital discharge or death, whichever occurred first. RESULTS: Between 2003 and 2008, 2,693 ACS patients were enrolled, of which 864 (32.1% were females. T he final diagnosis was unstable angina in 1,141 patients, (42.4%, with a mortality rate of 3.06%, non-ST elevation acute myocardial infarction (AMI in 529 (19.6%, with mortality of 6.8%, ST-elevation AMI 950 (35.3%, with mortality of 8.1% and non-confirmed diagnosis 73 (2.7%, with mortality of 1.36%. The overall mortality was 5.53%. The multiple logistic regression model identified the following as risk factors for death regarding demographic factors and interventions: female gender (OR=1.45, diabetes mellitus (OR=1.59, body mass index (OR=1.27 and percutaneous coronary intervention (OR=0.70. A second model for death due to major complications identified: cardiogenic shock/acute pulmonary edema (OR=4.57, reinfarction (OR=3.48, stroke (OR=21.56, major bleeding (OR=3.33, cardiopulmonary arrest (OR=40.27 and Killip functional class (OR=3.37. CONCLUSION: The Brazilian Registry of Acute Coronary Syndrome data do not differ from other data collected abroad. The understanding of their findings may help promote better planning and management of acute coronary syndrome care

  9. Hamartomatous polyposis syndromes

    DEFF Research Database (Denmark)

    Jelsig, Anne Marie; Qvist, Niels; Brusgaard, Klaus

    2014-01-01

    Hamartomatous Polyposis Syndromes (HPS) are genetic syndromes, which include Peutz-Jeghers syndrome, Juvenile polyposis syndrome, PTEN hamartoma tumour syndrome (Cowden Syndrom, Bannayan-Riley-Ruvalcaba and Proteus Syndrome) as well as hereditary mixed polyposis syndrome. Other syndromes such as ...

  10. A familial Cri-du-Chat/5p deletion syndrome resulted from rare maternal complex chromosomal rearrangements (CCRs and/or possible chromosome 5p chromothripsis.

    Directory of Open Access Journals (Sweden)

    Heng Gu

    Full Text Available Cri-du-Chat syndrome (MIM 123450 is a chromosomal syndrome characterized by the characteristic features, including cat-like cry and chromosome 5p deletions. We report a family with five individuals showing chromosomal rearrangements involving 5p, resulting from rare maternal complex chromosomal rearrangements (CCRs, diagnosed post- and pre-natally by comprehensive molecular and cytogenetic analyses. Two probands, including a 4½-year-old brother and his 2½-year- old sister, showed no diagnostic cat cry during infancy, but presented with developmental delay, dysmorphic and autistic features. Both patients had an interstitial deletion del(5(p13.3p15.33 spanning ≈ 26.22 Mb. The phenotypically normal mother had de novo CCRs involving 11 breakpoints and three chromosomes: ins(11;5 (q23;p14.1p15.31,ins(21;5(q21;p13.3p14.1,ins(21;5(q21;p15.31p15.33,inv(7(p22q32dn. In addition to these two children, she had three first-trimester miscarriages, two terminations due to the identification of the 5p deletion and one delivery of a phenotypically normal daughter. The unaffected daughter had the maternal ins(11;5 identified prenatally and an identical maternal allele haplotype of 5p. Array CGH did not detect any copy number changes in the mother, and revealed three interstitial deletions within 5p15.33-p13.3, in the unaffected daughter, likely products of the maternal insertions ins(21;5. Chromothripsis has been recently reported as a mechanism drives germline CCRs in pediatric patients with congenital defects. We postulate that the unique CCRs in the phenotypically normal mother could resulted from chromosome 5p chromothripsis, that further resulted in the interstitial 5p deletions in the unaffected daughter. Further high resolution sequencing based analysis is needed to determine whether chromothripsis is also present as a germline structural variation in phenotypically normal individuals in this family.

  11. A familial Cri-du-Chat/5p deletion syndrome resulted from rare maternal complex chromosomal rearrangements (CCRs) and/or possible chromosome 5p chromothripsis.

    Science.gov (United States)

    Gu, Heng; Jiang, Jian-hui; Li, Jian-ying; Zhang, Ya-nan; Dong, Xing-sheng; Huang, Yang-yu; Son, Xin-ming; Lu, Xinyan; Chen, Zheng

    2013-01-01

    Cri-du-Chat syndrome (MIM 123450) is a chromosomal syndrome characterized by the characteristic features, including cat-like cry and chromosome 5p deletions. We report a family with five individuals showing chromosomal rearrangements involving 5p, resulting from rare maternal complex chromosomal rearrangements (CCRs), diagnosed post- and pre-natally by comprehensive molecular and cytogenetic analyses. Two probands, including a 4½-year-old brother and his 2½-year- old sister, showed no diagnostic cat cry during infancy, but presented with developmental delay, dysmorphic and autistic features. Both patients had an interstitial deletion del(5)(p13.3p15.33) spanning ≈ 26.22 Mb. The phenotypically normal mother had de novo CCRs involving 11 breakpoints and three chromosomes: ins(11;5) (q23;p14.1p15.31),ins(21;5)(q21;p13.3p14.1),ins(21;5)(q21;p15.31p15.33),inv(7)(p22q32)dn. In addition to these two children, she had three first-trimester miscarriages, two terminations due to the identification of the 5p deletion and one delivery of a phenotypically normal daughter. The unaffected daughter had the maternal ins(11;5) identified prenatally and an identical maternal allele haplotype of 5p. Array CGH did not detect any copy number changes in the mother, and revealed three interstitial deletions within 5p15.33-p13.3, in the unaffected daughter, likely products of the maternal insertions ins(21;5). Chromothripsis has been recently reported as a mechanism drives germline CCRs in pediatric patients with congenital defects. We postulate that the unique CCRs in the phenotypically normal mother could resulted from chromosome 5p chromothripsis, that further resulted in the interstitial 5p deletions in the unaffected daughter. Further high resolution sequencing based analysis is needed to determine whether chromothripsis is also present as a germline structural variation in phenotypically normal individuals in this family.

  12. Syndromic Craniosynostosis Can Define New Candidate Genes for Suture Development or Result from the Non-specifc Effects of Pleiotropic Genes: Rasopathies and Chromatinopathies as Examples

    Directory of Open Access Journals (Sweden)

    Marcella Zollino

    2017-10-01

    Full Text Available Craniosynostosis is a heterogeneous condition caused by the premature fusion of cranial sutures, occurring mostly as an isolated anomaly. Pathogenesis of non-syndromic forms of craniosynostosis is largely unknown. In about 15–30% of cases craniosynostosis occurs in association with other physical anomalies and it is referred to as syndromic craniosynostosis. Syndromic forms of craniosynostosis arise from mutations in genes belonging to the Fibroblast Growth Factor Receptor (FGFR family and the interconnected molecular pathways in most cases. However it can occur in association with other gene variants and with a variety of chromosome abnormalities as well, usually in association with intellectual disability (ID and additional physical anomalies. Evaluating the molecular properties of the genes undergoing intragenic mutations or copy number variations (CNVs along with prevalence of craniosynostosis in different conditions and animal models if available, we made an attempt to define two distinct groups of unusual syndromic craniosynostosis, which can reflect direct effects of emerging new candidate genes with roles in suture homeostasis or a non-specific phenotypic manifestation of pleiotropic genes, respectively. RASopathies and 9p23p22.3 deletions are reviewed as examples of conditions in the first group. In particular, we found that craniosynostosis is a relatively common component manifestation of cardio-facio-cutaneous (CFC syndrome. Chromatinopathies and neurocristopathies are presented as examples of conditions in the second group. We observed that craniosynostosis is uncommon on average in these conditions. It was randomly associated with Kabuki, Koolen-de Vries/KANSL1 haploinsufficiency and Mowat–Wilson syndromes and in KAT6B-related disorders. As an exception, trigonocephaly in Bohring-Opitz syndrome reflects specific molecular properties of the chromatin modifier ASXL1 gene. Surveillance for craniosynostosis in syndromic forms of

  13. Syndromic Craniosynostosis Can Define New Candidate Genes for Suture Development or Result from the Non-specifc Effects of Pleiotropic Genes: Rasopathies and Chromatinopathies as Examples.

    Science.gov (United States)

    Zollino, Marcella; Lattante, Serena; Orteschi, Daniela; Frangella, Silvia; Doronzio, Paolo N; Contaldo, Ilaria; Mercuri, Eugenio; Marangi, Giuseppe

    2017-01-01

    Craniosynostosis is a heterogeneous condition caused by the premature fusion of cranial sutures, occurring mostly as an isolated anomaly. Pathogenesis of non-syndromic forms of craniosynostosis is largely unknown. In about 15-30% of cases craniosynostosis occurs in association with other physical anomalies and it is referred to as syndromic craniosynostosis. Syndromic forms of craniosynostosis arise from mutations in genes belonging to the Fibroblast Growth Factor Receptor (FGFR) family and the interconnected molecular pathways in most cases. However it can occur in association with other gene variants and with a variety of chromosome abnormalities as well, usually in association with intellectual disability (ID) and additional physical anomalies. Evaluating the molecular properties of the genes undergoing intragenic mutations or copy number variations (CNVs) along with prevalence of craniosynostosis in different conditions and animal models if available, we made an attempt to define two distinct groups of unusual syndromic craniosynostosis, which can reflect direct effects of emerging new candidate genes with roles in suture homeostasis or a non-specific phenotypic manifestation of pleiotropic genes, respectively. RASopathies and 9p23p22.3 deletions are reviewed as examples of conditions in the first group. In particular, we found that craniosynostosis is a relatively common component manifestation of cardio-facio-cutaneous (CFC) syndrome. Chromatinopathies and neurocristopathies are presented as examples of conditions in the second group. We observed that craniosynostosis is uncommon on average in these conditions. It was randomly associated with Kabuki, Koolen-de Vries/KANSL1 haploinsufficiency and Mowat-Wilson syndromes and in KAT6B-related disorders. As an exception, trigonocephaly in Bohring-Opitz syndrome reflects specific molecular properties of the chromatin modifier ASXL1 gene. Surveillance for craniosynostosis in syndromic forms of intellectual

  14. Lemierre's syndrome.

    LENUS (Irish Health Repository)

    O'Dwyer, D N

    2012-02-01

    Lemierre\\'s syndrome is a rare disease that results in an oropharyngeal infection, which precipitates an internal jugular vein thrombosis and metastatic infection. Fusobacterium necrophorum is an anaerobic Gram-negative bacillus and has been identified as the causative agent. We describe the case of a young girl whose presentation and diagnosis were confounded by a history of valvular heart disease. Infection of heart valves can produce many of the signs and symptoms associated with Lemierre\\'s syndrome. We describe the diagnosis, investigation and optimal management of this rare disorder.

  15. Compartment syndromes

    Science.gov (United States)

    Mubarak, S. J.; Pedowitz, R. A.; Hargens, A. R.

    1989-01-01

    The compartment syndrome is defined as a condition in which high pressure within a closed fascial space (muscle compartment) reduces capillary blood perfusion below the level necessary for tissue viability'. This condition occurs in acute and chronic (exertional) forms, and may be secondary to a variety of causes. The end-result of an extended period of elevated intramuscular pressure may be the development of irreversible tissue injury and Volkmann's contracture. The goal of treatment of the compartment syndrome is the reduction of intracompartmental pressure thus facilitating reperfusion of ischaemic tissue and this goal may be achieved by decompressive fasciotomy. Controversy exists regarding the critical pressure-time thresholds for surgical decompression and the optimal diagnostic methods of measuring intracompartmental pressures. This paper will update and review some current knowledge regarding the pathophysiology, aetiology, diagnosis, and treatment of the acute compartment syndrome.

  16. Surgical Decompression of Exertional Compartment Syndrome of the Forearm in Professional Motorcycling Racers: Comparative Long-term Results of Wide-Open Versus Mini-Open Fasciotomy.

    Science.gov (United States)

    Barrera-Ochoa, Sergi; Haddad, Sleiman; Correa-Vázquez, Eva; Font Segura, Jordi; Gil, Emilia; Lluch, Alex; Soldado, Francisco; Mir-Bullo, Xavier

    2016-03-01

    To compare the long-term results of 2 surgical techniques for forearm chronic exertional compartment syndrome (CECS) in professional motorcycling racers and to study a new diagnostic variable for CECS, TRest. Retrospective case series. 4. University Hospital. Thirty-four patients identified from a surgical database who had been operated on for upper-limb CECS. The purpose of the study was to report and compare the long-term results of 2 surgical techniques using fasciotomies [wide-open fasciotomy (WOF) versus mini-open fasciotomy (MOF)] for forearm CECS in professional motorcycling racers. Pain [visual analog scale (100-point scale)] and functional scores (Quick-DASH) at 3 months after surgery and at regular intervals during clinical visits. Surgical complications: Level of satisfaction with the outcome. Time to return to full activity after surgery. Thirty-four racers, 22 with bilateral involvement (n = 56), were diagnosed with CECS and were treated either with WOF (n = 24) or MOF (n = 32) depending on the surgeon's indication. Mini-open fasciotomy was usually selected in cases who need a faster recovery because of competition schedule. Visual analog scale and Quick-DASH improved 63 and 73 points, respectively (P motorcycling racers with forearm CECS. Although the sensitivity of TRest is quite high in our series, further studies are still needed to validate its diagnostic value. Surgical open or mini-invasive fasciotomy is equally successful in motorcycling racers with forearm CECS.

  17. CT-guided injection of botulinic toxin for percutaneous therapy of piriformis muscle syndrome with preliminary MRI results about denervative process

    Energy Technology Data Exchange (ETDEWEB)

    Fanucci, E.; Masala, S.; Sodani, G.; Varrucciu, V.; Romagnoli, A.; Squillaci, E.; Simonetti, G. [Dept. of Radiology, Univ. of Rome (Italy)

    2001-12-01

    Piriformis muscle syndrome (PMS) is a cause of sciatica, leg or buttock pain and disability. The pain is usually increased by muscular contraction, palpation or prolonged sitting. The aim of our paper was to evaluate the feasibility of CT-guided percutaneous botulinic toxin (BTX) injection for the purpose of PMS treatment. Thirty patients suffering from PMS, suspected with clinical and electrophysiological criteria, after imaging examinations excluding other causes of sciatic pain, resulted positive at the lidocaine test and were treated by intramuscular injection of BTX type A under CT guidance. The follow-up (12 months) was performed with clinical examination in all cases and with MR 3 months after the procedure in 9 patients to evaluate the denervative process entity of the treated muscle. In 26 cases relief of symptoms was obtained after 5-7 days. In 4 patients an insufficient relief of pain justified a second percutaneous treatment which was clinically successful. No complications or side effects were recorded after BTX injection. The MR examination showed a signal intensity change of the treated muscle in 7 patients due to the denervative process of PM, whereas in the remaining 2 cases only an atrophy of the treated muscle was detected. Larger series are necessary to confirm these MRI preliminary results. The CT-guided BTX injection in the PMS is an emergent and feasible technique that obtains an excellent local therapeutic effect without risk of imprecise inoculation. (orig.)

  18. Do women with polycystic ovary syndrome (PCOS) report differences in sex-typed behavior as children and adolescents?: Results of a pilot study.

    Science.gov (United States)

    Manlove, Heidi Ann; Guillermo, Chrisalbeth; Gray, Peter B

    2008-01-01

    The etiology of polycystic ovary syndrome (PCOS) is poorly understood, as is the impact of female hyperandrogenism on psychosocial and psychosexual behavior. The present study sought to test whether women with PCOS self-report more masculine sex-typed behavior in childhood, at adolescence, and as adults. Sixty-one women (34 women self-reporting a clinical diagnosis of PCOS and 27 control women not reporting a PCOS diagnosis) completed a questionnaire containing items on childhood sex-typed behavior, adolescent behavior, and present masculinity, femininity and mood. Results revealed significant differences (psex-typed behavior and gender conformity according to PCOS status, with women in the PCOS group reporting less feminine childhood behavior, and less gender-typical behavior. A composite of sex-typed behaviors did not differ according to PCOS status at adolescence, although several individual items did. As adults, we found no differences between the groups in masculinity and femininity, although PCOS women reported lower happiness than controls (porientation and having changed sex orientation more often than controls (p<0.10). Results of this pilot study provide evidence of PCOS women self-reporting discrete psychosocial developmental patterns compared to non-PCOS women. These differences in retrospective self-reported accounts may be factual or biased by current psychosocial differences, such as depression.

  19. Family Environment and the Metabolic Syndrome: Results from the Hispanic Community Health Study/Study of Latinos (HCHS/SOL) Sociocultural Ancillary Study (SCAS)

    Science.gov (United States)

    Brintz, Carrie E.; LLabre, Maria M.; Arguelles, William; Isasi, Carmen R.; Arredondo, Elva M.; Navas-Nacher, Elena L.; Perreira, Krista M.; González, Hector M.; Rodriguez, Carlos J.; Daviglus, Martha; Schneiderman, Neil; Gallo, Linda C.

    2015-01-01

    Background Metabolic syndrome (MetS) is a risk factor for cardiovascular disease. Very limited work has evaluated associations of sociocultural processes with prevalence of the MetS. Purpose The purpose of the present study was to evaluate associations between family environment (cohesion/conflict) and the MetS, in a multi-site sample of US Hispanics/Latinos. Methods A total of 3278 participants from the Hispanic Community Health Study/Study of Latinos underwent a clinical exam and completed psychosocial measures including family environment (cohesion and conflict) as part of the Sociocultural Ancillary Study. Results The association between family environment and the MetS was moderated by sex. Among all women, higher family conflict was associated with MetS prevalence. Results by ancestry group showed that only among Cuban women, higher conflict was associated with the MetS, whereas only among Dominican men, greater cohesion was associated with the MetS. Conclusions The family context may be a sociocultural protective or risk factor among Hispanics/Latinos in terms of MetS risk, but these associations may vary by sex and Hispanic background. PMID:26068057

  20. Blood pressure normalization by fixed perindopril/indapamide combination in hypertensive patients with or without associate metabolic syndrome: results of the OPTIMAX 2 study

    Directory of Open Access Journals (Sweden)

    Jean-Jacques Mourad

    2008-04-01

    Full Text Available Jean-Jacques Mourad1, Dulce Lameira1, Pierre-Jean Guillausseau21APHP, Service de Médecine interne, Hôpital Avicenne, Bobigny, France; 2APHP, Service de Médecine B, Hôpital Lariboisière, et Université Paris, Paris, FranceAbstract: The aim of the observational pharmaco-epidemiological study Optimax II was to seek whether the pre-existence of a metabolic syndrome (MS defi ned by the NCEP-ATP III criteria impacts blood pressure (BP control in hypertensive patients receiving a fixed perindopril/indapamide combination therapy. The primary objective of the study was to compare in patients with and without MS the rate of BP control defined as a systolic BP ≤140 mmHg and a diastolic BP ≤90 mmHg. Patients were prospectively included and the follow-up lasted 6 months. The study population consisted of 24,069 hypertensive patients (56% men; mean age 62 ± 11 years; 18% diabetics; mean BP at inclusion 162 ± 13/93 ± 9 mmHg. MS was found in 30.4% of the patients (n = 7322: 35.2% women and 20.1% men. Three therapeutic subgroups were constituted: Group A, previously untreated, received the combination therapy as initial treatment; Group B, previously treated but with unsatisfactory results and/or treatment intolerance, had its previous treatment switched to perindopril/indapamide; and Group C, previously treated, with good treatment tolerance but uncontrolled BP, received the study treatment in adjunction to the previous one. The normalization rate was 70.3% in group A, 68.4% in Group B, and 64.1% in Group C (p < 0.0001. The pre-existence of MS did not show any significant influence on these rates since BP lowering was –22.7 ± 13.7 (SBP and –12.0 ± 10.0 mmHg (DBP in patients without MS and –22.6 ± 13.3 (SBP and −12.1 ± 9.7 (DBP in those with MS. The results of this study show a significant effect of perindopril/indapamide treatment on systolic BP lowering, whatever the treatment status: initiation, switch, or adjunctive therapy, and

  1. Direct-to-patient disclosure of results of mismatch repair screening for Lynch syndrome via electronic personal health record: a feasibility study

    National Research Council Canada - National Science Library

    Hall, Michael J; Herda, Meagan M; Handorf, Elizabeth A; Rybak, Christina C; Keleher, Cindy A; Siemon, Mark; Daly, Mary B

    2014-01-01

    The adoption of universal mismatch repair screening of colorectal and endometrial cancers has the potential to improve detection of Lynch syndrome, as well as to improve health outcomes among cancer...

  2. Optimal medical therapy for secondary prevention after an acute coronary syndrome: 18-month follow-up results at a tertiary teaching hospital in South Korea

    Directory of Open Access Journals (Sweden)

    Byeon HJ

    2016-02-01

    Full Text Available Hee Ja Byeon,1,* Young-Mo Yang,2,* Eun Joo Choi21Department of Pharmacy, Chosun University Hospital, 2Department of Pharmacy, College of Pharmacy, Chosun University, Gwangju, South Korea*These authors contributed equally to this workBackground: Acute coronary syndrome (ACS is a fatal cardiovascular disease caused by atherosclerotic plaque erosion or rupture and formation of coronary thrombus. The latest guidelines for ACS recommend the combined drug regimen, comprising aspirin, P2Y12 inhibitor, angiotensin-converting enzyme inhibitor or angiotensin II receptor blocker, β-blocker, and statin, at discharge after ACS treatment to reduce recurrent ischemic cardiovascular events. This study aimed to examine prescription patterns of secondary prevention drugs in Korean patients with ACS after hospital discharge, to access the appropriateness of secondary prevention drug therapy for ACS, and to evaluate whether to persistently use discharge medications for 18 months.Methods: This study was retrospectively conducted with the patients who were discharged from the tertiary hospital, located in South Korea, after ACS treatment between September 2009 and August 2013. Data were collected through electronic medical record.Results: Among 3,676 patients during the study period, 494 were selected based on inclusion and exclusion criteria. The regimen of aspirin + clopidogrel + β-blocker + angiotensin-converting enzyme inhibitor/angiotensin II receptor blocker + statin was prescribed to 374 (75.71% patients with ACS at discharge. Specifically, this regimen was used in 177 (69.69% unstable angina patients, 44 (70.97% non-ST-segment elevation myocardial infarction patients, and 153 (85.96% ST-segment elevation myocardial infarction patients. Compared with the number of ACS patients with all five guideline-recommended drugs at discharge, the number of ACS patients using them 12 (n=169, 34.21% and 18 (n=105, 21.26% months after discharge tended to be gradually

  3. Urban and rural variation in clustering of metabolic syndrome components in the Thai population: results from the fourth National Health Examination Survey 2009

    Science.gov (United States)

    2011-01-01

    Background Information on the distribution of Metabolic syndrome (MetS) and its combinations by urban/rural areas in lower-middle income countries has been limited. It is not clear how the various combinations of MetS components varied by urban/rural population and if particular combinations of MetS are more common. This study aimed to estimate the prevalence of MetS and combinations of MetS components according to sex and urban/rural areas from a nationally representative sample of Thai adults. Methods Data from the fourth National Health Examination Survey of 19,256 Thai adults aged 20 years and over were analyzed. MetS was defined using the harmonized criteria of six international expert groups with Asian-specific cut-point for waist circumference. Results The prevalence of MetS was 23.2% among adults aged ≥ 20 years (19.5% in men and 26.8% in women). Among men, the prevalence of MetS in urban was higher than those in rural areas (23.1% vs 17.9%, P < 0.05), but among women, the prevalence was higher in rural areas (27.9% vs 24.5%, P < 0.05). Overall, an individual component of low high density lipoprotein (HDL) and hypertriglyceridemia were more common in rural areas, while obesity, high blood pressure and hyperglycemia were more common in urban areas. The most common combination of MetS components in men was the clustering of low HDL, hypertriglyceridemia, and high blood pressure (urban: 3.4% vs. rural: 3.9%, adjusted OR 0.9, 95%CI 0.7, 1.1). Among women, the most common combination was the clustering of obesity, low HDL, and hypertriglyceridemia (urban: 3.9% vs rural: 5.9%, adjusted OR 0.8, 95%CI 0.6, 0.9), followed by the clustering of these three components with high blood pressure (urban: 3.1% vs. rural 4.5%, adjusted OR 0.8, 95%CI 0.7, 0.9). Conclusion Metabolic syndrome affects both urban and rural population with different pattern of MetS combinations. Dyslipidemia and obesity were the most common components among women in rural areas, hence

  4. Surgery is more cost-effective than splinting for carpal tunnel syndrome in the Netherlands: results of an economic evaluation alongside a randomized controlled trial

    Directory of Open Access Journals (Sweden)

    Adèr Herman J

    2006-11-01

    Full Text Available Abstract Background Carpal tunnel syndrome (CTS is a common disorder, often treated with surgery or wrist splinting. The objective of this economic evaluation alongside a randomized trial was to evaluate the cost-effectiveness of splinting and surgery for patients with CTS. Methods Patients at 13 neurological outpatient clinics with clinically and electrophysiologically confirmed idiopathic CTS were randomly allocated to splinting (n = 89 or surgery (n = 87. Clinical outcome measures included number of nights waking up due to symptoms, general improvement, severity of the main complaint, paraesthesia at night and during the day, and utility. The economic evaluation was performed from a societal perspective and involved all relevant costs. Results There were no differences in costs. The mean total costs per patient were in the surgery group EURO 2,126 compared to EURO 2,111 in the splint group. After 12 months, the success rate in the surgery group (92% was significantly higher than in the splint group (72%. The acceptability curve showed that at a relatively low ceiling ratio of EURO 2,500 per patient there is a 90% probability that surgery is cost-effective. Conclusion In the Netherlands, surgery is more cost-effective compared with splinting, and recommended as the preferred method of treatment for patients with CTS.

  5. Palpable purpura complicated by streptococcal toxic shock syndrome resulting in limb necrosis and amputation: a case of levamisole and cocaine coingestion.

    Science.gov (United States)

    Freyer, Craig W; Peters, Michael

    2012-02-01

    Palpable purpura resulting from cocaine and levamisole coingestion has been reported with increasing frequency over the last several years as distribution of this drug combination becomes more universal. Toxicity from ingestion of this dangerous combination is difficult to diagnose due to the multitude of possible clinical presentations, variety of possible adulterants, and elusive nature of levamisole given its short half-life and limited availability of detection methods. Levamisole is a chemotherapeutic and immunomodulatory agent currently marketed as a veterinary anthelmintic. We describe the case of a 48-year-old woman admitted to our intensive care unit with a diagnosis of streptococcal toxic shock syndrome (STSS), confirmed from fluid taken from an elbow lesion that grew Streptococcus pyogenes. She was noted to have bullae of the elbow and diffuse purpura with necrotic centers covering a large portion of her body (trunk, legs, arms, back, toes, fingers, and tip of nose). On further evaluation, she was found to have ingested levamisole-tainted cocaine. The patient's complications related to either cocaine and levamisole coingestion or STSS included thrombocytopenia, acute renal failure, and limb necrosis. Thrombocytopenia gradually improved upon treatment with prednisone, and acute renal failure improved with intravenous fluid resuscitation; however, she subsequently required several appendage amputations due to severe gangrene. Clinicians must have high suspicion for ingestion of this drug combination and request prompt testing of urine samples for levamisole if a patient who admits to illicit drug use presents with purpuric or necrotic skin lesions. © 2012 Pharmacotherapy Publications, Inc.

  6. Intraobserver, interobserver, and intermethod agreement for results of myelography, computed tomography-myelography, and low-field magnetic resonance imaging in dogs with disk-associated wobbler syndrome.

    Science.gov (United States)

    De Decker, Steven; Gielen, Ingrid M V L; Duchateau, Luc; Corzo-Menéndez, Nuria; van Bree, Henri J J; Kromhout, Kaatje; Bosmans, Tim; Van Ham, Luc M L

    2011-06-15

    To determine intraobserver, interobserver, and intermethod agreement for results of myelography, computed tomography-myelography (CTM), and low-field magnetic resonance imaging (MRI) in dogs with disk-associated wobbler syndrome (DAWS). Prospective cross-sectional study. 22 dogs with DAWS. All dogs underwent myelography, CTM, and low-field MRI. Each imaging study was interpreted twice by 4 observers who were blinded to signalment and clinical information of the patients. The following variables were assessed by all 3 techniques: number, site, and direction of spinal cord compressions; narrowed intervertebral disk spaces; vertebral body abnormalities; spondylosis deformans; and abnormal articular facets. Intervertebral foraminal stenosis was assessed on CTM and MRI images. Intraobserver, interobserver, and intermethod agreement were calculated by κ and weighted κ statistics. There was very good to good intraobserver agreement for most variables assessed by myelography and only moderate intraobserver agreement for most variables assessed by CTM and low-field MRI. There was moderate to fair interobserver and intermethod agreement for most variables assessed by the 3 diagnostic techniques. There was very good or good intraobserver, interobserver, or intermethod agreement for the site and direction of the worst spinal cord compression as assessed by all the imaging modalities; abnormal articular facets and intervertebral foraminal stenosis were the least reliably assessed variables, with poor interobserver agreement regardless of imaging modality used. There was considerable variation in image interpretation among observers and between use of various imaging modalities; these imaging techniques should be considered complementary in assessment of dogs with DAWS.

  7. Validation of an LC-MS/MS Method for Urinary Lactulose and Mannitol Quantification: Results in Patients with Irritable Bowel Syndrome.

    Science.gov (United States)

    Gervasoni, Jacopo; Schiattarella, Arcangelo; Giorgio, Valentina; Primiano, Aniello; Russo, Consuelo; Tesori, Valentina; Scaldaferri, Franco; Urbani, Andrea; Zuppi, Cecilia; Persichilli, Silvia

    2016-01-01

    Aim. Lactulose/mannitol ratio is used to assess intestinal barrier function. Aim of this work was to develop a robust and rapid method for the analysis of lactulose and mannitol in urine by liquid chromatography coupled to tandem mass spectrometry. Lactulose/mannitol ratio has been measured in pediatric patients suffering from irritable bowel syndrome. Methods. Calibration curves and raffinose, used as internal standard, were prepared in water : acetonitrile 20 : 80. Fifty μL of urine sample was added to 450 μL of internal standard solution. The chromatographic separation was performed using a Luna NH2 column operating at a flow rate of 200 μL/min and eluted with a linear gradient from 20% to 80% water in acetonitrile. Total run time is 9 minutes. The mass spectrometry operates in electrospray negative mode. Method was fully validated according to European Medicine Agency guidelines. Results and Conclusions. Linearity ranged from 10 to 1000 mg/L for mannitol and 2.5 to 1000 mg/L for lactulose. Imprecision in intra- and interassay was lower than 15% for both analytes. Accuracy was higher than 85%. Lactulose/mannitol ratio in pediatric patients is significantly higher than that measured in controls. The presented method, rapid and sensitive, is suitable in a clinical laboratory.

  8. Family Environment and the Metabolic Syndrome: Results from the Hispanic Community Health Study/Study of Latinos (HCHS/SOL) Sociocultural Ancillary Study (SCAS).

    Science.gov (United States)

    Penedo, Frank J; Brintz, Carrie E; LLabre, Maria M; Arguelles, William; Isasi, Carmen R; Arredondo, Elva M; Navas-Nacher, Elena L; Perreira, Krista M; González, Hector M; Rodriguez, Carlos J; Daviglus, Martha; Schneiderman, Neil; Gallo, Linda C

    2015-12-01

    Metabolic syndrome (MetS) is a risk factor for cardiovascular disease. Very limited work has evaluated associations of sociocultural processes with prevalence of the MetS. The purpose of the present study was to evaluate associations between family environment (cohesion/conflict) and the MetS, in a multi-site sample of US Hispanics/Latinos. A total of 3278 participants from the Hispanic Community Health Study/Study of Latinos underwent a clinical exam and completed psychosocial measures including family environment (cohesion and conflict) as part of the Sociocultural Ancillary Study. The association between family environment and the MetS was moderated by sex. Among all women, higher family conflict was associated with MetS prevalence. Results by ancestry group showed that only among Cuban women, higher conflict was associated with the MetS, whereas only among Dominican men, greater cohesion was associated with the MetS. The family context may be a sociocultural protective or risk factor among Hispanics/Latinos in terms of MetS risk, but these associations may vary by sex and Hispanic background.

  9. Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis Standard Reporting and Evaluation Guidelines: Results of a National Institutes of Health Working Group.

    Science.gov (United States)

    Maverakis, Emanual; Wang, Elizabeth A; Shinkai, Kanade; Mahasirimongkol, Surakameth; Margolis, David J; Avigan, Mark; Chung, Wen-Hung; Goldman, Jennifer; La Grenade, Lois; Pirmohamed, Munir; Shear, Neil H; Tassaeeyakul, Wichittra; Hoetzenecker, Wolfram; Klaewsongkram, Jettanong; Rerkpattanapipat, Ticha; Manuyakorn, Wiparat; Yasuda, Sally Usdin; Sharon, Victoria R; Sukhov, Andrea; Micheletti, Robert; Struewing, Jeff; French, Lars E; Cheng, Michelle Y

    2017-06-01

    Toxic epidermal necrolysis (TEN) and Stevens-Johnson Syndrome (SJS) are rare, acute, life-threatening dermatologic disorders involving the skin and mucous membranes. Research into these conditions is hampered by a lack of standardization of case reporting and data collection. To establish a standardized case report form to facilitate comparisons and maintain data quality based on an international panel of SJS/TEN experts who performed a Delphi consensus-building exercise. The elements presented for committee scrutiny were adapted from previous case report forms and from PubMed literature searches of highly cited manuscripts pertaining to SJS/TEN. The expert opinions and experience of the members of the consensus group were included in the discussion. Overall, 21 out of 29 experts who were invited to participate in the online Delphi exercise agreed to participate. Surveys at each stage were administered via an online survery software tool. For the first 2 Delphi rounds, results were analyzed using the Interpercentile Range Adjusted for Symmetry method and statements that passed consensus formulated a new case report form. For the third Delphi round, the case report form was presented to the committee, who agreed that it was "appropriate and useful" for documenting cases of SJS/TEN, making it more reliable and valuable for future research endeavors. With the consensus of international experts, a case report form for SJS/TEN has been created to help standardize the collection of patient information in future studies and the documentation of individual cases.

  10. Genetics of Polycystic Ovary Syndrome

    OpenAIRE

    Prapas, N; Karkanaki, A; Prapas, I; Kalogiannidis, I; Katsikis, I; Panidis, D

    2009-01-01

    Polycystic ovary syndrome (PCOS) is a syndrome involving defects in primary cellular control mechanisms that result in the expression of chronic anovulation and hyperandrogenism. This syndrome has been for many years one of the most controversial entities in gynecological endocrinology. Polycystic ovary syndrome has been proven to be a familial condition. Although the role of genetic factors in PCOS is strongly supported, the genes that are involved in the etiology of the syndrome have not be...

  11. An examination of sex and racial/ethnic differences in the metabolic syndrome among adults: a confirmatory factor analysis and a resulting continuous severity score.

    Science.gov (United States)

    Gurka, Matthew J; Lilly, Christa L; Oliver, M Norman; DeBoer, Mark D

    2014-02-01

    The metabolic syndrome (MetS) is typically diagnosed based on abnormalities in specific clustered clinical measures that are associated with increased risk for coronary heart disease (CHD) and Type 2 diabetes mellitus (T2DM). However, current MetS criteria result in racial/ethnic discrepancies. Our goals were to use confirmatory factor analysis (CFA) to delineate differential contributions to MetS by sub-group, and if contributions were discovered, develop sex and racial/ethnic-specific equations to calculate MetS severity. Using data on adults from the National Health and Nutrition Examination Survey 1999-2010, we performed a CFA of a single MetS factor that allowed differential loadings across groups, resulting in a sex and race/ethnicity-specific continuous MetS severity score. Loadings to the single MetS factor differed by sub-group for each MetS component (pfactor loadings among non-Hispanic-blacks for triglycerides and among Hispanics for waist circumference. Systolic blood pressure exhibited low factor loadings among all groups. MetS severity scores were correlated with biomarkers of future disease (high-sensitivity C-reactive-protein, uric acid, insulin resistance). Non-Hispanic-black-males with diabetics had a low prevalence of MetS but high MetS severity scores that were not significantly different from other racial/ethnic groups. This analysis among adults uniquely demonstrated differences between sexes and racial/ethnic groups regarding contributions of traditional MetS components to an assumed single factor. The resulting equations provide a clinically-accessible and interpretable continuous measure of MetS for potential use in identifying adults at higher risk for MetS-related diseases and following changes within individuals over time. These equations hold potential to be a powerful new outcome for use in MetS-focused research and interventions. © 2013.

  12. Leisure time physical activity in middle age predicts the metabolic syndrome in old age: results of a 28-year follow-up of men in the Oslo study.

    Science.gov (United States)

    Holme, Ingar; Tonstad, Serena; Sogaard, Anne Johanne; Larsen, Per G Lund; Haheim, Lise Lund

    2007-07-12

    Data are scarce on the long term relationship between leisure time physical activity, smoking and development of metabolic syndrome and diabetes. We wanted to investigate the relationship between leisure time physical activity and smoking measured in middle age and the occurrence of the metabolic syndrome and diabetes in men that participated in two cardiovascular screenings of the Oslo Study 28 years apart. Men residing in Oslo and born in 1923-32 (n = 16 209) were screened for cardiovascular diseases and risk factors in 1972/3. Of the original cohort, those who also lived in same area in 2000 were invited to a repeat screening examination, attended by 6 410 men. The metabolic syndrome was defined according to a modification of the National Cholesterol Education Program criteria. Leisure time physical activity, smoking, educational attendance and the presence of diabetes were self-reported. Leisure time physical activity decreased between the first and second screening and tracked only moderately between the two time points (Spearman's rho = 0.25). Leisure time physical activity adjusted for age and educational attendance was a significant predictor of both the metabolic syndrome and diabetes in 2000 (odds ratio for moderately vigorous versus sedentary/light activity was 0.65 [95% CI, 0.54-0.80] for the metabolic syndrome and 0.68 [0.52-0.91] for diabetes) (test for trend P metabolic syndrome but not with diabetes in 2000. Physical activity during leisure recorded in middle age prior to the current waves of obesity and diabetes had an independent predictive association with the presence of the metabolic syndrome but not significantly so with diabetes 28 years later in life, when the subjects were elderly.

  13. [Arthroscopic transcapsular iliopsoas tenotomy from the peripheral versus the central compartment in internal snapping hip syndrome. Short-term results of a prospective randomised study].

    Science.gov (United States)

    Zeman, P; Cibulková, J; Kormunda, S; Koudela, K; Nepraš, P; Matějka, J

    2013-01-01

    In this prospective randomised study, the short-term results of arthroscopic transcapsular iliopsoas tenotomy approached from the peripheral versus the central compartment for internal snapping hip syndrome are presented. A group of 19 patients (15 women and four men; mean age, 24.3 years) who underwent arthroscopic transcapsular iliopsoas tenotomy for internal snapping hip syndrome in the period between September 2010 and December 2011 were prospectively evaluated. No injury, hip surgery or feeling of hip instability was recorded in their personal histories. Radiographs did not show any dysplasia, retroversion of the acetabulum or cam lesions. The patients were allocated to two groups using sealed envelope randomisation: Group 1 patients (n=10) were treated by tenotomy from the peripheral compartment and group 2 patients (n=9) underwent tenotomy from the central compartment during traction of the lower extremity. The evaluation included pre-operative 3T MRI findings, arthroscopically detected intra-articular lesions, duration of traction and post-operative complications. The pre-operative WOMAC scores were compared with those at one-year follow-up. In comparison of the two groups, the Mann-Whitney exact test was used for WOMAC scores and Fisher's exact test for post-operative complications. Statistical significance was set at a 0.05 level. In comparing post-operative complications, a significant difference (p=0.0468) between the groups was found only for genital paresthesia, which did not occur in group 1. The other differences were not statistically significant. The pre-operative WOMAC scores did not differ significantly between the groups (p=0.79). The post-operative WOMAC scores were significantly higher in group 1 (p=0.02). In each group the change in WOMAC scores was different and was statistically significant in group 1 (p=0.0014). Associated intra-articular hip pathologies, most frequently synovitis of the peripheral compartment, acetabular chondropathy, or

  14. A novel COL4A1 gene mutation results in autosomal dominant non-syndromic congenital cataract in a Chinese family

    Science.gov (United States)

    2014-01-01

    Background Almost one-third of congenital cataracts are primarily autosomal dominant disorders, which are also called autosomal dominant congenital cataract, resulting in blindness and clouding of the lens. The purpose of this study was to identify the disease-causing mutation in a Chinese family affected by bilateral, autosomal dominant congenital cataract. Methods The detection of candidate gene mutation and the linkage analysis of microsatellite markers were performed for the known candidate genes. Molecular mapping and cloning of candidate genes were used in all affected family members to screen for potential genetic mutations and the mutation was confirmed by single enzyme digestion. Results The proband was diagnosed with isolated, congenital cataract without the typical clinical manifestations of cataract, which include diabetes, porencephaly, sporadic intracerebral hemorrhage, and glomerulopathy. A novel mutation, c.2345 G > C (Gly782Ala), in exon 31 of the collagen type IV αlpha1 (COL4A1) gene, which encodes the collagen alpha-1(IV) chain, was found to be associated with autosomal dominant congenital cataract in a Chinese family. This mutation was not found in unaffected family members or in 200 unrelated controls. Sequence analysis confirmed that the Gly782 amino acid residue is highly conserved. Conclusions The novel mutation (c.2345 G > C) of the COL4A1 gene is the first report of a non-syndromic, autosomal dominant congenital cataract, thereby highlighting the important role of type IV collagen in the physiological and optical properties of the lens. PMID:25124159

  15. Low Starch/Low Dairy Diet Results in Successful Treatment of Obesity and Co-Morbidities Linked to Polycystic Ovary Syndrome (PCOS).

    Science.gov (United States)

    Phy, Jennifer L; Pohlmeier, Ali M; Cooper, Jamie A; Watkins, Phillip; Spallholz, Julian; Harris, Kitty S; Berenson, Abbey B; Boylan, Mallory

    2015-04-01

    Polycystic Ovary Syndrome (PCOS) affects approximately 15% of reproductive-age women and increases risk of insulin resistance, type 2 diabetes mellitus, cardiovascular disease, cancer and infertility. Hyperinsulinemia is believed to contribute to or worsen all of these conditions, and increases androgens in women with PCOS. Carbohydrates are the main stimulators of insulin release, but research shows that dairy products and starches elicit greater postprandial insulin secretion than non-starchy vegetables and fruits. The purpose of this study was to determine whether an 8-week low-starch/low-dairy diet results in weight loss, increased insulin sensitivity, and reduced testosterone in women with PCOS. Prospective 8-week dietary intervention using an ad libitum low starch/low dairy diet in 24 overweight and obese women (BMI ≥ 25 kg/m 2 and ≤ 45 kg/m 2 ) with PCOS. Diagnosis of PCOS was based on the Rotterdam criteria. Weight, BMI, Waist Circumference (WC), Waist-to-Height Ratio (WHtR), fasting and 2-hour glucose and insulin, homeostasis model assessment of Insulin Resistance (HOMA-IR), HbA1c, total and free testosterone, and Ferriman-Gallwey scores were measured before and after the 8-week intervention. There was a reduction in weight (-8.61 ± 2.34 kg, pdiet intervention. Total testosterone (-10.0 ± 17.0 ng/dL, p=0.008), free testosterone (-1.8 pg/dL, p=0.043) and Ferriman-Gallwey scores (-2.1 ± 2.7 points (p=0.001) were also reduced from pre- to post-intervention. An 8-week low-starch/low-dairy diet resulted in weight loss, improved insulin sensitivity and reduced testosterone in women with PCOS.

  16. [PATHOPHYSIOLOGY OF THE CARDIORENAL SYNDROME].

    Science.gov (United States)

    Balint, I; Vučak, J; Bašić-Marković, N; Klarić, D; Šakić, V Amerl

    2016-12-01

    Cardiorenal syndrome, a complex pathophysiological disorder of both the heart and kidneys, is a condition in which acute or chronic damage to one organ can lead to acute or chronic dysfunction of the other organ. Depending on primary organ dysfunction and disease duration, there are five different types of cardiorenal syndrome. Type 1 cardiorenal syndrome (acute cardiorenal syndrome) is defined as acute kidney injury caused by sudden decrease in heart function. Type 2 cardiorenal syndrome (chronic cardiorenal syndrome) refers to chronic kidney disease linked to chronic heart failure. Type 3 cardiorenal syndrome (acute renocardial syndrome) is caused by acute kidney injury that leads to heart failure. Type 4 cardiorenal syndrome (chronic renocardial syndrome) includes chronic heart failure due to chronic kidney disease. Type 5 cardiorenal syndrome (secondary cardiorenal syndrome) is reversible or irreversible condition marked by simultaneous heart and kidney insufficiency, as a result of multiorgan disease such as sepsis, diabetes mellitus, sarcoidosis, amyloidosis, etc. The pathophysiological patterns of cardiorenal syndrome are extremely complicated. Despite numerous publications, perplexed physiological, biochemical and hormonal disturbances as parts of the main pathogenic mechanisms of cardiorenal syndrome remain obscure. Even though there are guidelines for the treatment of patients with heart failure and chronic kidney disease, similar guidelines for the treatment of cardiorenal syndrome are lacking. In everyday practice, it is crucial to diagnose cardiorenal syndrome and use all diagnostic and therapeutic procedures available to prevent or alleviate kidney and heart failure.

  17. Radicular compression syndrome in the lumbar region resulting from synovial cyst of the small zygapophysical joints. A case report; Lumbales Wurzelkompressionssyndrom bei Synovialzyste des kleinen Wirbelgelenkes

    Energy Technology Data Exchange (ETDEWEB)

    Stimmer, H. [Inst. fuer Roentgendiagnostik, Klinikum rechts der Isar, Technische Univ. Muenchen (Germany); Allgayer, B. [Inst. fuer Roentgendiagnostik, Klinikum rechts der Isar, Technische Univ. Muenchen (Germany)

    1994-12-01

    The formation of a synovial cyst in the small zygapophysial joints is a possibility to be considered in all patients presenting with vague lumbar pains or radicular syndrome, particularly in individuals of advanced age with a prolonged history of disorders classifiable with the so-called ``facet syndrome`` or degenerative changes to the vertebral column. Both computerized tomography and nmr imaging permit a reliable diagnostic differentiation on the basis of the criteria defined above. (orig./MG) [Deutsch] Die Synovialzyste des kleinen Wirbelgelenkes ist als Differentialdiagnose sowohl unspezifischer lumbaler Beschwerden als auch radikulaerer Syndrome zu beruecksichtigen, dies insbesondere bei aelteren Patienten mit laenger bestehenden Beschwerden im Sinne eines sogen. Facettensyndromes und degenerativen Wirbelsaeulenveraenderungen. Computertomographie und Kernspintomographie erlauben unter Beruecksichtigung der beschriebenen Kriterien eine sichere diagnostische Zuordnung. (orig./MG)

  18. Prader-Willi Syndrome (PWS): Other FAQs

    Science.gov (United States)

    ... should be considered. 1 Inheritance of PWS and Angelman Syndrome PWS could affect the offspring of someone ... risk of being born with PWS or with Angelman syndrome . Angelman syndrome, like PWS, results from defects ...

  19. Compartment syndromes

    Directory of Open Access Journals (Sweden)

    Aly Saber

    2014-01-01

    Full Text Available Body compartments bound by fascia and limited by bony backgrounds are found in the extremities, buttocks, abdomen and thoracic cavity; conditions that cause intracompartmental swelling and hypertension can lead to ischemia and limb loss. Although compartment syndromes are described in all body regions from head to toe, the etiology, diagnosis, treatment, and prevention are best characterized for three key body regions: the first is extremity, the second is abdominal, and the third is thoracic compartment syndromes. Thoracic compartment syndrome usually occurs as a result of pathological accumulation of air, fluid or blood in the mediastinum and has traditionally been described in trauma. As the intracranial contents are confined within a rigid bony cage, any increase in volume within this compartment as a result of brain oedema or an expanding traumatic intracranial haematoma, leads to a reciprocal decrease in the volume of cerebrospinal fluid and intracranial venous blood volume. Limb compartment syndromes may present either in acute or chronic clinical forms. Intra-abdominal pressure can be measured by direct or indirect methods. While the direct methods are quite accurate, they are impractical and not feasible for routine practice. Indirect measurement is done through inferior vena cava, gastric, rectal and urinary bladder. Indirect measurement through urinary bladder is the simplest and is considered the method of choice for intra-abdominal pressure measurement. The management of patients with intra-abdominal hypertension is based on four important principles: the first is related to the specific procedures aiming at lowering intra-abdominal pressure and the consequences of intra-abdominal hypertension and abdominal compartment syndrome; the second is for general support and medical management of the critically ill patient; while the third is surgical decompression and the fourth is optimization after surgical decompression.

  20. Cowden syndrome.

    Science.gov (United States)

    Masmoudi, Abderrahmen; Chermi, Zied Mohamed; Marrekchi, Slaheddine; Raida, Ben Salah; Boudaya, Sonia; Mseddi, Madiha; Jalel, Meziou Taha; Turki, Hamida

    2011-03-26

    Cowden syndrome is a rare genodermatosis charactarized by presence of multiple hamartomas. The aim of the study was to specify the clinical, therapeutic and prognostic aspects of Cowden syndrome. Our study included 4 patients with Cowden syndrome, 2 males and 2 females between 14 and 46 years old. Clinical examination of the skin revealed facials papules (4 cases), acral keratosis (1 case), translucent keratotic papules (2 cases). Oral examination revealed papules (4 cases), papillomatosis (4 cases), gingival hypertrophy (4 cases) and scrotal tongue (2 cases). Investigations revealed thyroid lesions (2 cases), fibrocystic disease and lipoma of the breast in 1 case, "glycogenic acanthosis" (1 case), macrocephaly (2 cases), dysmorphic face (1 case) and lichen nitidus (1 case). Oral etretinate and acitretine were temporary efficient in 2 patients. Topical treatment with tretinoin lotion resulted in some improvement in cutaneous, but not mucosal lesions in one patient. No cancer was revealed. The pathognomonic mucocutaneous lesions were found in all patients. However, no degenerative lesions have been revealed. A new association of Cowden syndrome with lichen nitidus was found. Treatment with oral retinoids was efficient on cutaneous lesions.

  1. Bloom syndrome.

    Science.gov (United States)

    Arora, Harleen; Chacon, Anna H; Choudhary, Sonal; McLeod, Michael P; Meshkov, Lauren; Nouri, Keyvan; Izakovic, Jan

    2014-07-01

    Bloom Syndrome (BS, MIM #210900) is an autosomal recessive genetic disorder caused by a mutation in the BLM gene, which codes for the DNA repair enzyme RecQL3 helicase. Without proper DNA repair mechanisms, abnormal DNA exchange takes place between sister chromatids and results in genetic instability that may lead to cancer, especially lymphoma and acute myelogenous leukemia, lower and upper gastrointestinal tract neoplasias, cutaneous tumors, and neoplasias in the genitalia and urinary tract. BS patients are usually of Ashkenazi Jewish descent and exhibit narrow facial features, elongated limbs, and several dermatologic complications including photosensitivity, poikiloderma, and telangiectatic erythema. The most concerning manifestation of BS is multiple malignancies, which require frequent screenings and strict vigilance by the physician. Therefore, distinguishing between BS and other dermatologic syndromes of similar presentation such as Rothmund-Thomson Syndrome, Erythropoietic Protoporphyria, and Cockayne Syndrome is paramount to disease management and to prolonging life. BS can be diagnosed through a variety of DNA sequencing methods, and genetic testing is available for high-risk populations. This review consolidates several sources on BS sequelae and aims to suggest the importance of differentiating BS from other dermatologic conditions. This paper also elucidates the recently discovered BRAFT and FANCM protein complexes that link BS and Fanconi anemia. © 2014 The International Society of Dermatology.

  2. Klinefelter Syndrome

    Directory of Open Access Journals (Sweden)

    Hande Peynirci

    2013-09-01

    Full Text Available Klinefelter syndrome is the most common sex chromosome disorder in males. Variation in clinical presentation and insufficient awareness of this syndrome among clinicians lead to fifty percent of patients remain undetected. Typical clinical features of Klinefelter syndrome are various degrees of hypogonadal symptoms, atrophic testes and gynaecomastia. However, these typical clinical symptoms may not be present in all patients. Even if serum testosterone levels are not markedly low, elevated serum follicle-stimulating hormone is a considerable laboratory finding. Definitive diagnosis is made by karyotype analysis of peripheral blood lymphocytes. It must be kept in mind that this analysis may be normal in rare conditions. Early recognition of patients during puberty and handling them as soon as possible is important. Testosterone replacement therapy results in increased muscle mass, bone mineral density and libido. The patient’s mood and self-esteem improve significantly. In general, patients with Klinefelter syndrome are accepted as infertile, however, assisted reproductive techniques may provide fertilization. Turk Jem 2013; 17: 63-7

  3. Optimal Waist Circumference Cut-Off Point for Multiple Risk Factor Aggregation: Results from the Maracaibo City Metabolic Syndrome Prevalence Study

    Directory of Open Access Journals (Sweden)

    Valmore Bermúdez

    2014-01-01

    Full Text Available Context and Objective. The purpose of this study was to determine optimal waist circumference (WC cut-off values for the detection of multiple risk factor aggregation in individuals from Maracaibo, Venezuela. Participants and Methods. A total of 1,902 adult individuals of both genders belonging to MMSPS were included. Complete physical, laboratory, and anthropometric examination were done to evaluate Metabolic Syndrome (MS components and insulin resistance. ROC curves were plotted for risk factor aggregation in order to assess WC cut-off point. Logistic regression models were constructed to assess risk factors associated with the WC. Results. There were 52.2% females and 47.8% males, with WC of 90.7±13.7 cm and 98.2±15.9 cm, respectively. ROC curves exhibited a WC cut-off point for women of 90.25 cm (68.4% sensitivity, 65.8% specificity and 95.15 cm (71.1% sensitivity, 67.4% specificity for men. HOMA2-IR and high blood pressure were associated with a WC over these cut-off points, as well as 2.5-fold risk increase for multiple risk factor aggregation (OR 2.56; CI 95%: 2.05–3.20; P<0.01. Conclusions. These population-specific WC cut-offs are readily applicable tools for detection of risk factor aggregation. Insulin resistance is closely associated with this definition of abdominal obesity, which may serve as a surrogate for its assessment.

  4. Exposure–response relationships for the ACGIH threshold limit value for hand-activity level: results from a pooled data study of carpal tunnel syndrome

    Science.gov (United States)

    Kapellusch, Jay M; Gerr, Frederic E; Malloy, Elizabeth J; Garg, Arun; Harris-Adamson, Carisa; Bao, Stephen S; Burt, Susan E; Dale, Ann Marie; Eisen, Ellen A; Evanoff, Bradley A; Hegmann, Kurt T; Silverstein, Barbara A; Theise, Matthew S; Rempel, David M

    2014-01-01

    Objective This paper aimed to quantify exposure–response relationships between the American Conference of Governmental Industrial Hygienists’ (ACGIH) threshold limit value (TLV) for hand-activity level (HAL) and incidence of carpal tunnel syndrome (CTS). Methods Manufacturing and service workers previously studied by six research institutions had their data combined and re-analyzed. CTS cases were defined by symptoms and abnormal nerve conduction. Hazard ratios (HR) were calculated using proportional hazards regression after adjusting for age, gender, body mass index, and CTS predisposing conditions. Results The longitudinal study comprised 2751 incident-eligible workers, followed prospectively for up to 6.4 years and contributing 6243 person-years of data. Associations were found between CTS and TLV for HAL both as a continuous variable [HR 1.32 per unit, 95% confidence interval (95% CI) 1.11–1.57] and when categorized using the ACGIH action limit (AL) and TLV. Those between the AL and TLV and above the TLV had HR of 1.7 (95% CI 1.2–2.5) and 1.5 (95% CI 1.0–2.1), respectively. As independent variables (in the same adjusted model) the HR for peak force (PF) and HAL were 1.14 per unit (95% CI 1.05–1.25), and 1.04 per unit (95% CI 0.93–1.15), respectively. Conclusion Those with exposures above the AL were at increased risk of CTS, but there was no further increase in risk for workers above the TLV. This suggests that the current AL may not be sufficiently protective of workers. Combinations of PF and HAL are useful for predicting risk of CTS. PMID:25266844

  5. No Reduction of Severe Fatigue in Patients With Postpolio Syndrome by Exercise Therapy or Cognitive Behavioral Therapy: Results of an RCT.

    Science.gov (United States)

    Koopman, Fieke S; Voorn, Eric L; Beelen, Anita; Bleijenberg, Gijs; de Visser, Marianne; Brehm, Merel A; Nollet, Frans

    2016-06-01

    People with postpolio syndrome (PPS) commonly experience severe fatigue that persists over time and negatively affects functioning and health-related quality of life (HRQoL). To study the efficacy of exercise therapy (ET) and cognitive behavioral therapy (CBT) on reducing fatigue and improving activities and HRQoL in patients with PPS. We conducted a multicenter, single-blinded, randomized controlled trial. Over 4 months, severely fatigued patients with PPS received ET, CBT, or usual care (UC). The primary end point (fatigue) was assessed using the subscale fatigue severity of the Checklist Individual Strength (CIS20-F). Secondary end points included activities and HRQoL, which were assessed with the Sickness Impact Profile and the 36-Item Short-Form, respectively. End points were measured at baseline and at 4, 7, and 10 months. A total of 68 patients were randomized. No differences were observed between the intervention groups and UC group for fatigue (mean differences in CIS20-F score = 1.47, 95%CI = -2.84 to 5.79, for ET versus UC; and 1.87, 95%CI = -2.24 to 5.98, for CBT versus UC), activities, or HRQoL. Our results demonstrate that neither ET nor CBT were superior to UC in reducing fatigue in severely fatigued PPS patients. Further research should investigate explanations for the lack of efficacy of these 2 currently advised approaches in clinical practice, which may provide clues to improving treatment aimed at reducing fatigue in PPS. © The Author(s) 2015.

  6. Effect of cessation of GH treatment on cognition during transition phase in Prader-Willi syndrome: results of a 2-year crossover GH trial

    Directory of Open Access Journals (Sweden)

    R. J. Kuppens

    2016-11-01

    Full Text Available Abstract Background Patients with Prader-Willi syndrome (PWS have a cognitive impairment. Growth hormone (GH treatment during childhood improves cognitive functioning, while cognition deteriorates in GH-untreated children with PWS. Cessation of GH treatment at attainment of adult height (AH might deteriorate their GH-induced improved cognition, while continuation might benefit them. We, therefore, investigated the effects of placebo versus GH administration on cognition in young adults with PWS who were GH-treated for many years during childhood and had attained AH. Method Two-year, randomized, double-blind, placebo-controlled cross-over study in 25 young adults with PWS. Cross-over intervention with placebo and GH (0.67 mg/m2/day, both during 1 year. Results Total (TIQ, verbal (VIQ and performance IQ (PIQ did not deteriorate during 1 year of placebo, compared to GH treatment (p > 0.322. Young adults with a lower TIQ had significantly more loss of TIQ points during placebo versus GH, in particular VIQ decreased more in those with a lower VIQ. The effect of placebo versus GH on TIQ, VIQ and PIQ was not different for gender or genotype. Conclusions Compared to GH treatment, 1 year of placebo did not deteriorate cognitive functioning of GH-treated young adults with PWS who have attained AH. However, patients with a lower cognitive functioning had more loss in IQ points during placebo versus GH treatment. The reassuring finding that 1 year of placebo does not deteriorate cognitive functioning does, however, not exclude a gradual deterioration of cognitive functioning on the long term. Trial registration ISRCTN24648386 , NTR1038 , Dutch Trial Register, www.trialregister.nl . Registered 16 August 2007.

  7. Metabolic syndrome in children and adolescents from Mérida city, Venezuela: Comparison of results using local and international reference values (CREDEFAR study).

    Science.gov (United States)

    Villalobos Reyes, Marjorie; Mederico, Maracelly; Paoli de Valeri, Mariela; Briceño, Yajaira; Zerpa, Yajaira; Gómez-Pérez, Roald; Camacho, Nolis; Martínez, José Luis; Valeri, Lenín; Arata-Bellabarba, Gabriela

    2014-11-01

    To obtain local reference values for blood lipids and blood pressure (BP), and to determine the prevalence of metabolic syndrome (MS) in children and adolescents from Mérida, Venezuela, and to compare results using local and international cut-off values. The study enrolled 916 participants of both sexes aged 9-18 years of age from educational institutions. Demographic, anthropometric, and BP data were collected. Fasting blood glucose and lipid profile were measured. Percentile distribution of lipid and BP values was done by age group and sex. Prevalence of MS was estimated based on the NCEP-ATPIII classification (as modified by Cook et al.) and the classification of the International Diabetes Federation, using percentiles of Mérida and the USA as cut-off points. Agreement between both classifications was estimated using the kappa test (κ). Prevalence of MS was 2.2% by Cook-Merida percentiles, as compared to 1.8% by Cook-USA percentiles, a moderate agreement (κ=0.54). Agreement between Cook et al. and IDF using Merida percentiles was weak (κ=0.28). There was a higher frequency of abdominal obesity, hypertriglyceridemia and hypertension, and a lower frequency of low HDL-C using Mérida percentiles. The risk (odds ratio) of having MS is greater if abdominal obesity exists (OR: 98.63, CI: 22.45-433.35, p=0.0001). MS was significantly more common in obese subjects (18.3%, p=0.0001). Prevalence of MS in this sample of children and adolescents was 2.2%. Lipid and BP values were lower in Venezuelan as compared to US, European, and Asian children and adolescents, and similar to those in Latin-American references. Own reference values are required for accurate diagnosis of MS, as well as a worldwide consensus on its diagnostic criteria. Copyright © 2014 SEEN. Published by Elsevier Espana. All rights reserved.

  8. Evaluation of Effectiveness of Embolization in Pelvic Congestion Syndrome with the New Vascular Occlusion Device (ArtVentive EOS™): Preliminary Results

    Energy Technology Data Exchange (ETDEWEB)

    Pyra, Krzysztof, E-mail: k.pyra@poczta.fm [Medical University of Lublin, Department of Interventional Radiology and Neuroradiology (Poland); Woźniak, Sławomir, E-mail: slavwo7572@gmail.com [Medical University of Lublin, III Gynecology Clinic (Poland); Drelich-Zbroja, Anna, E-mail: zbroanna@interia.pl; Wolski, Andrzej, E-mail: andrzej.s.wolski@gmail.com; Jargiełło, Tomasz, E-mail: tojarg@interia.pl [Medical University of Lublin, Department of Interventional Radiology and Neuroradiology (Poland)

    2016-08-15

    PurposeThis study aimed to collect confirmatory data in support of the safety and efficiency of the ArtVentive EOS™ for the treatment of the pelvic congestion syndrome (PCS). This study was based on the OCCLUDE 1 Study Protocol approved by the Local Ethics Committee.Materials and MethodsA prospective study carried out in June and July 2014 included 12 women aged 21–48 years (mean 31 years) scheduled for PCS embolization using the ArtVentive EOS™. The inclusion criteria were clinical symptoms of PCS documented by transvaginal Doppler ultrasound and pelvic MRI. The pelvic pain was assessed by VAS score from 0 to 10 (0 represents lack of pain and 10 unbearable pain). A decrease in pelvic pain intensity based on the VAS was considered a clinical success.ResultsSuccessful embolization procedures with ArtVentive EOS™ were performed in 11 out of 12 patients. Nine patients underwent unilateral embolization of the left ovarian vein, and two had bilateral embolization of the ovarian veins. Complete ovarian vein occlusion confirmed by post deployment venography was achieved in all 11 patients. Procedures lasted from 19 to 45 min (average 28 min). Pain intensity decrease was observed in all 11 patients—a decrease of 5.6 points—from 7.3 pre-procedure to 1.6 post-embolization (standard deviation: 0.67). In one case, the left ovarian vein was injured by guide wire manipulation with contrast extravasation—not clinically significant.ConclusionsThe use of ArtVentive EOS™ for occlusion of the ovarian veins in PCS patients is safe and effective.

  9. Factor analysis of metabolic syndrome components and predicting type 2 diabetes: Results of 10-year follow-up in a Middle Eastern population.

    Science.gov (United States)

    Ayubi, Erfan; Khalili, Davood; Delpisheh, Ali; Hadaegh, Farzad; Azizi, Fereidoun

    2015-11-01

    The relationship among components of metabolic syndrome (MetS) and their association with diabetes is unclear in West Asia. The aim of the present study was to conduct factor analysis of MetS components and the effect these factors have on the incidence of type 2 diabetes (T2D) in a population-based cohort study of the Tehran Lipid and Glucose Study (TLGS). The present study enrolled 1861 men and 2706 women (20-60 years of age), from Tehran (Iran) who were free of diabetes at baseline and followed them for 10 years. A principal component analysis was performed to extract standardized factors from MetS components. Logistic regression was used to detect associations between the extracted factors and the incidence of diabetes. A propensity score was used to correct differential selection bias resulting from loss to follow-up. Factor analysis identified three factors (blood pressure, lipids and glycemia). Waist circumference was shared in three all factors. Blood pressure, lipids and glycemia were related to the incidence of diabetes with odds ratios (95% confidence intervals) of 2.23 (1.31-3.78), 1.89 (1.27-3.67), and 7.54 (4.09-13.91), respectively, in men and 2.13 (1.34-3.40), 2.06 (1.35-3.15), and 13.91 (7.29-26.51), respectively, in women for the third versus the first tertile of these standardized factors. Central adiposity may have a pivotal role in MetS linking other risk factors together. Glycemia had a high impact on the incidence of diabetes, whereas blood pressure and lipid had a similar moderate effect on the incidence of diabetes. © 2014 Ruijin Hospital, Shanghai Jiaotong University School of Medicine and Wiley Publishing Asia Pty Ltd.

  10. Validation of the post sleep questionnaire for assessing subjects with restless legs syndrome: results from two double-blind, multicenter, placebo-controlled clinical trials

    Directory of Open Access Journals (Sweden)

    Bharmal Murtuza

    2011-04-01

    Full Text Available Abstract Background Because of the subjective nature of Restless Legs Syndrome (RLS symptoms and the impact of these symptoms on sleep, patient-reported outcomes (PROs play a prominent role as study endpoints in clinical trials investigating RLS treatments. The objective of this study was to validate a new measure, the Post Sleep Questionnaire (PSQ, to assess sleep dysfunction in subjects with moderate-to-severe RLS symptoms. Methods Pooled data were analyzed from two 12-week, randomized, placebo-controlled trials of gabapentin enacarbil (N = 540. At baseline and Week 12, subjects completed the PSQ and other validated health surveys: IRLS Rating Scale, Clinical Global Impression of Improvement (CGI-I, Profile of Mood States (POMS, Medical Outcomes Study Scale-Sleep (MOS-Sleep, and RLS-Quality of Life (RLSQoL. Pooled data were used post hoc to examine the convergent, divergent, known-group validity and the responsiveness of the PSQ. Results Convergent validity was demonstrated by significant correlations between baseline PSQ items and total scores of IRLS, POMS, RLSQoL, and the MOS-Sleep Scale (p ≤ 0.007 each. Divergent validity was demonstrated through the lack of significant correlations between PSQ items and demographic characteristics. Correlations (p Conclusions Although these analyses were potentially limited by the use of clinical trial data and not prospective data from a study conducted solely for validation purposes, the PSQ demonstrated robust psychometric properties and is a valid instrument for assessing sleep and sleep improvements in subjects with moderate-to-severe RLS symptoms. Trial Registration This study analyzed data from two registered trials, NCT00298623 and NCT00365352.

  11. Cost-Effectiveness and Cost-Utility Analysis of Spinal Cord Stimulation in Patients With Failed Back Surgery Syndrome: Results From the PRECISE Study.

    Science.gov (United States)

    Zucco, Furio; Ciampichini, Roberta; Lavano, Angelo; Costantini, Amedeo; De Rose, Marisa; Poli, Paolo; Fortini, Gianpaolo; Demartini, Laura; De Simone, Enrico; Menardo, Valentino; Cisotto, Piero; Meglio, Mario; Scalone, Luciana; Mantovani, Lorenzo G

    2015-06-01

    To assess the cost-effectiveness and cost-utility of Spinal Cord Stimulation (SCS) in patients with failed back surgery syndrome (FBSS) refractory to conventional medical management (CMM). We conducted an observational, multicenter, longitudinal ambispective study, where patients with predominant leg pain refractory to CMM expecting to receive SCS+CMM were recruited in 9 Italian centers and followed up to 24 months after SCS. We collected data on clinical status (pain intensity, disability), Health-Related Quality-of-Life (HRQoL) and on direct and indirect costs before (pre-SCS) and after (post-SCS) the SCS intervention. Costs were quantified in € 2009, adopting the National Health Service's (NHS), patient and societal perspectives. Benefits and costs pre-SCS versus post-SCS were compared to estimate the incremental cost-effectiveness and cost utility ratios. 80 patients (40% male, mean age 58 years) were recruited. Between baseline and 24 months post-SCS, clinical outcomes and HRQoL significantly improved. The EQ-5D utility index increased from 0.421 to 0.630 (p costs increased from €6600 (pre-SCS) to €13,200 (post-SCS) per patient per year. Accordingly, the cost-utility acceptability curve suggested that if decision makers' willingness to pay per Quality-Adjusted-Life-Years (QALYs) was €60,000, SCS implantation would be cost-effective in 80% and 85% of cases, according to the NHS's and societal point of views, respectively. Our results suggest that in clinical practice, SCS+CMM treatment of FBSS patients refractory to CMM provides good value for money. Further research is encouraged in the form of larger, long-term studies. © 2015 International Neuromodulation Society.

  12. Discrepancy between prevalence and perceived effectiveness of treatment methods in myofascial pain syndrome: Results of a cross-sectional, nationwide survey

    Directory of Open Access Journals (Sweden)

    Freiberg Florentina

    2010-02-01

    Full Text Available Abstract Background Myofascial pain is a common dysfunction with a lifetime prevalence affecting up to 85% of the general population. Current guidelines for the management of myofascial pain are not available. In this study we investigated how physicians on the basis of prescription behaviour evaluate the effectiveness of treatment options in their management of myofascial pain. Methods We conducted a cross-sectional, nationwide survey with a standardized questionnaire among 332 physicians (79.8% male, 25.6% female, 47.5 ± 9.6 years experienced in treating patients with myofascial pain. Recruitment of physicians took place at three German meetings of pain therapists, rheumatologists and orthopaedists, respectively. Physicians estimated the prevalence of myofascial pain amongst patients in their practices, stated what treatments they used routinely and then rated the perceived treatment effectiveness on a six-point scale (with 1 being excellent. Data are expressed as mean ± standard deviation. Results The estimated overall prevalence of active myofascial trigger points is 46.1 ± 27.4%. Frequently prescribed treatments are analgesics, mainly metamizol/paracetamol (91.6%, non-steroidal anti-inflammatory drugs/coxibs (87.0% or weak opioids (81.8%, and physical therapies, mainly manual therapy (81.1%, TENS (72.9% or acupuncture (60.2%. Overall effectiveness ratings for analgesics (2.9 ± 0.7 and physical therapies were moderate (2.5 ± 0.8. Effectiveness ratings of the various treatment options between specialities were widely variant. 54.3% of all physicians characterized the available treatment options as insufficient. Conclusions Myofascial pain was estimated a prevalent condition. Despite a variety of commonly prescribed treatments, the moderate effectiveness ratings and the frequent characterizations of the available treatments as insufficient suggest an urgent need for clinical research to establish evidence-based guidelines for the

  13. Discrepancy between prevalence and perceived effectiveness of treatment methods in myofascial pain syndrome: Results of a cross-sectional, nationwide survey

    Science.gov (United States)

    2010-01-01

    Background Myofascial pain is a common dysfunction with a lifetime prevalence affecting up to 85% of the general population. Current guidelines for the management of myofascial pain are not available. In this study we investigated how physicians on the basis of prescription behaviour evaluate the effectiveness of treatment options in their management of myofascial pain. Methods We conducted a cross-sectional, nationwide survey with a standardized questionnaire among 332 physicians (79.8% male, 25.6% female, 47.5 ± 9.6 years) experienced in treating patients with myofascial pain. Recruitment of physicians took place at three German meetings of pain therapists, rheumatologists and orthopaedists, respectively. Physicians estimated the prevalence of myofascial pain amongst patients in their practices, stated what treatments they used routinely and then rated the perceived treatment effectiveness on a six-point scale (with 1 being excellent). Data are expressed as mean ± standard deviation. Results The estimated overall prevalence of active myofascial trigger points is 46.1 ± 27.4%. Frequently prescribed treatments are analgesics, mainly metamizol/paracetamol (91.6%), non-steroidal anti-inflammatory drugs/coxibs (87.0%) or weak opioids (81.8%), and physical therapies, mainly manual therapy (81.1%), TENS (72.9%) or acupuncture (60.2%). Overall effectiveness ratings for analgesics (2.9 ± 0.7) and physical therapies were moderate (2.5 ± 0.8). Effectiveness ratings of the various treatment options between specialities were widely variant. 54.3% of all physicians characterized the available treatment options as insufficient. Conclusions Myofascial pain was estimated a prevalent condition. Despite a variety of commonly prescribed treatments, the moderate effectiveness ratings and the frequent characterizations of the available treatments as insufficient suggest an urgent need for clinical research to establish evidence-based guidelines for the treatment of myofascial

  14. Post-Irradiation Bladder Syndrome After Radiotherapy of Malignant Neoplasm of Small Pelvis Organs: An Observational, Non-Interventional Clinical Study Assessing VESIcare®/Solifenacin Treatment Results.

    Science.gov (United States)

    Jaszczyński, Janusz; Kojs, Zbigniew; Stelmach, Andrzej; Wohadło, Łukasz; Łuczyńska, Elzbieta; Heinze, Sylwia; Rys, Janusz; Jakubowicz, Jerzy; Chłosta, Piotr

    2016-07-30

    BACKGROUND Radiotherapy is explicitly indicated as one of the excluding factors in diagnosing overactive bladder syndrome (OAB). Nevertheless, symptoms of OAB such as urgent episodes, incontinence, pollakiuria, and nocturia, which are consequences of irradiation, led us to test the effectiveness of VESIcare®/Solifenacin in patients demonstrating these symptoms after radiation therapy of small pelvis organs due to malignant neoplasm. MATERIAL AND METHODS We conducted an observatory clinical study including 300 consecutive patients with symptoms of post-irradiation bladder; 271 of those patients completed the study. The observation time was 6 months and consisted of 3 consecutive visits taking place at 12-week intervals. We used VESIcare® at a dose of 5 mg a day. Every sixth patient was examined urodynamically at the beginning and at the end of the observation period, with an inflow speed of 50 ml/s. RESULTS We noticed improvement and decline in the average number of episodes a day in the following parameters: number of micturitions a day (-36%, P<0.01), nocturia (-50%, P<0.01), urgent episodes (-41%, P<0.03), and episodes of incontinence (-43%, P<0.01). The patients' quality of life improved. The average maximal cystometric volume increased by 34 ml (21%, p<0.01), average bladder volume of "first desire" increased by 42 ml (49%, P<0.01), and average detrusor muscle pressure at maximal cystometric volume diminished by 9 cmH2O (-36%, P<0.03). CONCLUSIONS The substance is well-tolerated. Solifenacin administered long-term to patients with symptoms of OAB after radiotherapy of a malignant neoplasm of the small pelvis organs has a daily impact in decreasing number of urgent episodes, incontinence, pollakiuria, and nocturia.

  15. Williams syndrome

    Science.gov (United States)

    A support group can be helpful for emotional support and for giving and receiving practical advice. The following organization provides additional information about Williams Syndrome: Williams Syndrome Association -- www.williams-syndrome.org

  16. WIEDEMANN SYNDROME

    African Journals Online (AJOL)

    hi-tech

    BILATERAL BENIGN HAEMORRHAGIC ADRENAL CYSTS IN BECKWITH - WIEDEMANN. SYNDROME: CASE REPORT. P. ANOOP and M. A. ANJAY. SUMMARY. Beckwith-Wiedemann syndrome is the most common overgrowth malformation syndrome. The classical features include macrosomia, macroglossia, ...

  17. Marfan Syndrome

    Science.gov (United States)

    Marfan syndrome is a disorder that affects connective tissue. Connective tissues are proteins that support skin, bones, blood vessels, ... A problem with the fibrillin gene causes Marfan syndrome. Marfan syndrome can be mild to severe, and ...

  18. Brown Syndrome

    Science.gov (United States)

    ... extraction) have also been linked to acquired Brown syndrome. Inflammation of the tendon-trochlea complex (from adult and juvenile rheumatoid arthritis, systemic lupus erythematosus and sinusitis) can be ... syndrome hereditary? Hereditary cases of Brown syndrome are rare. ...

  19. Asperger Syndrome

    Science.gov (United States)

    ... Page You are here Home » Disorders » All Disorders Asperger Syndrome Information Page Asperger Syndrome Information Page What research is being done? ... Definition Treatment Prognosis Clinical Trials Organizations Publications Definition Asperger syndrome (AS) is a developmental disorder. It is ...

  20. Nevoid Basal Cell Carcinoma Syndrome (Gorlin Syndrome).

    Science.gov (United States)

    Bresler, Scott C; Padwa, Bonnie L; Granter, Scott R

    2016-06-01

    Nevoid basal cell carcinoma syndrome, or basal cell nevus syndrome (Gorlin syndrome), is a rare autosomal dominantly inherited disorder that is characterized by development of basal cell carcinomas from a young age. Other distinguishing clinical features are seen in a majority of patients, and include keratocystic odontogenic tumors (formerly odontogenic keratocysts) as well as dyskeratotic palmar and plantar pitting. A range of skeletal and other developmental abnormalities are also often seen. The disorder is caused by defects in hedgehog signaling which result in constitutive pathway activity and tumor cell proliferation. As sporadic basal cell carcinomas also commonly harbor hedgehog pathway aberrations, therapeutic agents targeting key signaling constituents have been developed and tested against advanced sporadically occurring tumors or syndromic disease, leading in 2013 to FDA approval of the first hedgehog pathway-targeted small molecule, vismodegib. The elucidation of the molecular pathogenesis of nevoid basal cell carcinoma syndrome has resulted in further understanding of the most common human malignancy.

  1. No Reduction of Severe Fatigue in Patients With Postpolio Syndrome by Exercise Therapy or Cognitive Behavioral Therapy: Results of an RCT

    NARCIS (Netherlands)

    Koopman, Fieke S.; Voorn, Eric L.; Beelen, Anita; Bleijenberg, Gijs; de Visser, Marianne; Brehm, Merel A.; Nollet, Frans

    2016-01-01

    People with postpolio syndrome (PPS) commonly experience severe fatigue that persists over time and negatively affects functioning and health-related quality of life (HRQoL). To study the efficacy of exercise therapy (ET) and cognitive behavioral therapy (CBT) on reducing fatigue and improving

  2. Structural and Functional Neuroimaging in Klinefelter (47,XXY) Syndrome: A Review of the Literature and Preliminary Results from a Functional Magnetic Resonance Imaging Study of Language

    Science.gov (United States)

    Steinman, Kyle; Ross, Judith; Lai, Song; Reiss, Allan; Hoeft, Fumiko

    2009-01-01

    Klinefelter (47,XXY) syndrome (KS), the most common form of sex-chromosomal aneuploidy, is characterized by physical, endocrinologic, and reproductive abnormalities. Individuals with KS also exhibit a cognitive/behavioral phenotype characterized by language and language-based learning disabilities and executive and attentional dysfunction in the…

  3. Puberty induction in Turner syndrome: Results of oestrogen treatment on development of secondary sexual characteristics, uterine dimensions and serum hormone levels

    NARCIS (Netherlands)

    Bannink, E.M.N.; Sassen, C. van; Buuren, S. van; Jong, F.H. de; Lequin, M.; Mulder, P.G.H.; Muinck Keizer-Schrama, S.M.P.F. de

    2009-01-01

    Background: Besides short stature, gonadal dysgenesis leading to a lack of oestrogen is one of the main characteristics of Turner syndrome (TS). In most TS girls, puberty is induced with exogenous oestrogens. Objective: To describe the pubertal development and uterine dimensions achieved by low-dose

  4. Elevated CXCL-8 expression in bronchoalveolar lavage correlates with disease severity in patients with acute respiratory distress syndrome resulting from tuberculosis

    NARCIS (Netherlands)

    Hashemian, Seyed Mohamad Reza; Mortaz, Esmaeil; Tabarsi, Payam; Jamaati, Hamidreza; Maghsoomi, Zohreh; Khosravi, Adnan; Garssen, Johan; Masjedi, Mohamad Reza; Velayati, Ali Akbar; Folkerts, Gert; Barnes, Peter J; Adcock, Ian M

    BACKGROUND: Tuberculosis (TB) is a rare but known cause of acute respiratory distress syndrome (ARDS). The role of inflammatory cytokines in the progression of ARDS in TB patients is unknown. OBJECTIVES: In this study we investigated the possible link between the levels of inflammatory cytokines in

  5. Effect of cessation of GH treatment on cognition during transition phase in Prader-Willi syndrome: Results of a 2-year crossover GH trial

    NARCIS (Netherlands)

    R.J. Kuppens (Renske); Mahabier, E.F.; N.E. Bakker (Nienke); E.P.C. Siemensma (Elbrich); S.H. Donze; A.C.S. Hokken-Koelega (Anita)

    2016-01-01

    textabstractBackground: Patients with Prader-Willi syndrome (PWS) have a cognitive impairment. Growth hormone (GH) treatment during childhood improves cognitive functioning, while cognition deteriorates in GH-untreated children with PWS. Cessation of GH treatment at attainment of adult height (AH)

  6. Cardiovascular Risk Factors (Diabetes, Hypertension, Hypercholesterolemia and Metabolic Syndrome) in Older People with Intellectual Disability: Results of the HA-ID Study

    Science.gov (United States)

    de Winter, C. F.; Bastiaanse, L. P.; Hilgenkamp, T. I. M.; Evenhuis, H. M.; Echteld, M. A.

    2012-01-01

    Hypertension, diabetes, hypercholesterolemia and the metabolic syndrome are important risk factors for cardiovascular disease (CVD). In older people with intellectual disability (ID), CVD is a substantial morbidity risk. The aims of the present study, which was part of the Healthy Ageing in Intellectual Disability (HA-ID) study, were (1) to…

  7. Impact of abciximab in diabetic patients with acute coronary syndrome who undergo percutaneous coronary intervention: results from a high-volume, single-center registry

    DEFF Research Database (Denmark)

    Iversen, Allan; Haahr-Pedersen, Sune Ammentorp; Joens, Christian

    2011-01-01

    The prevalence of diabetes mellitus (DM) and ischemic heart disease is increasing. Moreover, patients with DM experiencing an acute coronary syndrome (ACS) have an increased risk of adverse outcomes after revascularization compared to non-diabetics. Data have suggested that the glycoprotein IIb...

  8. RECOMBINANT HUMAN INTERLEUKIN-1 RECEPTOR ANTAGONIST IN THE TREATMENT OF PATIENTS WITH SEPSIS SYNDROME - RESULTS FROM A RANDOMIZED, DOUBLE-BLIND, PLACEBO-CONTROLLED TRIAL

    NARCIS (Netherlands)

    FISHER, C. J.; DHAINAUT, J. F. A.; Opal, S. M.; Pribble, J. P.; BALK, R. A.; SLOTMAN, G. J.; IBERTI, T. J.; RACKOW, E. C.; SHAPIRO, M. J.; GREENMAN, R. L.; REINES, H. D.; SHELLY, M. P.; THOMPSON, B. W.; LABRECQUE, J. F.; Catalano, M. A.; KNAUS, W. A.; Sadoff, J. C.; ASTIZ, M.; CARPATI, C.; BONE, R. C.; FREIDMAN, B.; MURE, A. J.; BRATHWAITE, C.; SHAPIRO, E.; MELHORN, L.; TAYLOR, R.; KEEGAN, M.; OBRIEN, J.; SCHEIN, R.; PENA, M.; WASSERLOUF, M.; OROPELLO, J.; BENJAMIN, E.; DELGUIDICE, R.; EMMANUEL, G.; LIE, T.; Anderson, L.; Marshall, J.; DEMAJO, W.; ROTSTEIN, O.; FOSTER, D.; Abraham, E.; MIDDLETON, H.; Perry, C.; LEVY, H.; FRY, D. E.; SIMPSON, S. Q.; CROWELL, R. E.; Neidhart, M.; Stevens, D.; COFFMAN, T.; NARASIMHAM, N.; MERRICK, D. K.; BERGQUIST, W.; MATZEL, K. E.; HUEBLER, M.; Foulke, G. E.; ALBERTSON, T. E.; WALBY, W. F.; ALLEN, R. P.; Baughman, R.; HASSELGREN, P. O.; Fink, M. P.; FAVORITO, F.; THOMPSON, B. T.; CORBIN, R.; SHELLHORSE, G. Y.; FRAZIER, A.; White, S.; GARRARD, C.; ACOURT, C.; STORER, S.; GERVICH, D. H.; FOSHE, D.; BRASE, R.; BAGDAHN, A.; COONEY, R.; Smith, J. S.; MARTIN, L. F.; Vincent, J. L.; Friedman, G.; Berlot, G.; FLETCHER, J. R.; WILLIAMS, M. D.; WRIGHT, T. F.; Johnson, S.; FEILD, C.; WOLF, K.; MACINTYRE, N.; DUBIN, H. G.; DURKIN, M. R.; DUBIN, P. K.; STAUBACH, K. H.; FEIN, A. M.; SCHULMAN, D. B.; NIEDERMAN, M. S.; CHALFIN, D. B.; van Leeuwen, P. A. M.; Boermeester, M. A.; Schneider, A. J.; BANDER, J.; IMM, A.; BERNARD, G.; Nelson, L.; Stroud, M.; SAFCSAK, K.; CERRA, F.; RINDAL, J.; Mann, H.; HALPERN, N.; SILVERSTEIN, J.; ALICEA, M.; Sibbald, W. J.; MARTIN, C. M.; RUTLEDGE, F. S.; PETTI, K.; RUSSELL, J. A.; KRUGER, R.; DRUMMOND, A.; LANGE, P.; SEIFERT, T.; DUROCHER, A.; TENAILLON, A.; BOITEAU, R.; LHERM, T.; Lowry, S. F.; Coyle, S. M.; Barie, P. S.; DEMARIA, E.; SNYDMAN, D. R.; SCHWAITZBERG, S. D.; NASRAWAY, S. A.; GRINDLINGER, J.; SUMMER, W.; DEBOISBLANC, B.; WAHL, M.; ALESTIG, K.; GROSSMAN, J.; MAKI, D.; PAZ, H. L.; Weiner, M.; BIHARI, D.; Campbell, D.; BLEICHNER, G.; DAHN, M. S.; LANGE, M. P. A.; Hall, J.; POHLMAN, A.; WENZEL, R. P.; GROSSERODE, M.; COSTIGAN, M.; MILESKI, W.; WEIGELT, J.; YESTON, N.; IRIZARRY, C.; Ross, J.; ROBBINS, J.; NIGHTINGALE, P.; OWEN, K.; SANDSTEDT, S.; Berg, S.; SIMON, G. L.; SENEFF, M. G.; CONRY, K. M.; ZIMMERMAN, J. L.; Dellinger, R. P.; Johnston, R.; ALLEE, P.; GRANDE, P. O.; MYHRE, E.; DHAINAUT, J. F.; HAMY, I.; Mira, J. P.; HARMON, J.; White, J.; MCKIE, L.; SILVERMAN, H.; TUMA, P.; Bennett, D.; PORTER, J. C.; LAURELL, M. H.; Jacobs, S.; ASH, S.; Stiles, D. M.; PRIOR, M. J.; KNATTERUD, G.; TERRIN, M.; KUFERA, J.; WILKENS, P.; RA, K.; MONROE, L.; SPRUNG, C.; HAMILTON, C. M.; MATTHAY, R.; MCCABE, W.; TONASCIA, J.; WIEDEMAN, H.; Wittes, J.; CAMPION, G. V.; CROFT, C. R.; LUSTICK, R.; LOOKABAUGH, J.; GORDON, G. S.; NOE, L.; BLOEDOW, D.; SMITH, C. G.; BRANNON, D.; KUSH, R.; NG, D.; MOORE, E.; BAZEMORE, K.; GALVAN, M.; Wagner, D.; HARRELL, F.; STABLEIN, D.

    1994-01-01

    Objective.-To further define the safety and efficacy of recombinant human interleukin 1 receptor antagonist (rhlL-1ra) in the treatment of sepsis syndrome. Study Design.-Randomized, double-blind, placebo-controlled, multicenter, multinational clinical trial. Population.-A total of 893 patients with

  9. Asperger Syndrome

    OpenAIRE

    Friedlander, Robin

    2002-01-01

    Abstract Asperger syndrome (AS) is a chronic neurodevelopmental disorder of social interaction, communication, and a restricted range of behaviors or interests. Although not generally associated with intellectual disability, the severe social disability and, in many cases, associated mental health and other medical problems, result in disability throughout life. The diagnosis is often delayed, sometimes into adulthood, which is unfortunate because there are now a range...

  10. Results of a randomized, double-blind study of romiplostim versus placebo in patients with low/intermediate-1–risk myelodysplastic syndrome and thrombocytopenia

    Science.gov (United States)

    Giagounidis, Aristoteles; Mufti, Ghulam J; Fenaux, Pierre; Sekeres, Mikkael A; Szer, Jeffrey; Platzbecker, Uwe; Kuendgen, Andrea; Gaidano, Gianluca; Wiktor-Jedrzejczak, Wieslaw; Hu, Kuolung; Woodard, Paul; Yang, Allen S; Kantarjian, Hagop M

    2014-01-01

    BACKGROUND Thrombocytopenia in patients with myelodysplastic syndrome (MDS) is associated with shortened survival and an increased risk of evolution to acute myeloid leukemia (AML). In this study, the authors evaluated the efficacy of romiplostim in patients who had thrombocytopenia with low-risk/intermediate-1–risk MDS. METHODS Patients who had thrombocytopenia with low-risk/intermediate-1–risk MDS (N = 250) were randomized 2:1 to receive romiplostim or placebo weekly for 58 weeks. RESULTS The primary endpoint— the number of clinically significant bleeding events (CSBEs) per patient—had a hazard ratio for romiplostim:placebo of 0.83 (95% confidence interval, 0.66-1.05; P = .13). CSBEs were reduced significantly in the romiplostim group for patients who had baseline platelet counts ≥20 × 109/L (P < .0001). For patients who had baseline platelet counts <20 × 109/L, there was no difference in the number of CSBEs, but the platelet transfusion rates were higher in the placebo group (P < .0001), which may have affected the overall CSBE results in this group with severe thrombocytopenia. The incidence of bleeding events was reduced significantly in the romiplostim group (relative risk, 0.92), as were protocol-defined platelet transfusions (relative risk, 0.77). Platelet response rates according to 2006 International Working Group criteria were higher for the group that received romiplostim (odds ratio, 15.6). On the basis of interim data, an independent data monitoring committee advised halting study drug because of concerns regarding excess blasts and AML rates with romiplostim (interim hazard ratio, 2.51). At 58 weeks, the AML rates were 6% in the romiplostim group and 4.9% in the placebo group (hazard ratio, 1.20; 95% confidence interval, 0.38-3.84), and the overall survival rates were similar. CONCLUSIONS Romiplostim treatment in patients with low-risk/intermediate-1–risk MDS increased platelet counts and decreased the number of

  11. Postinjection delirium/sedation syndrome in patients with schizophrenia receiving olanzapine long-acting injection: results from a large observational study.

    Science.gov (United States)

    Meyers, Kristin J; Upadhyaya, Himanshu P; Landry, John L; Chhabra-Khanna, Rashna; Falk, Deborah M; Seetharama Rao, Balasubramanya; Jones, Meghan E

    2017-07-01

    Postinjection delirium/sedation syndrome (PDSS) has been reported uncommonly during treatment with olanzapine long-acting injection (LAI), a sustained-release formulation of olanzapine. The primary aim of the study was to estimate the incidence per injection and per patient of PDSS events in adult patients with schizophrenia who were receiving olanzapine LAI in real-world clinical practice. Secondary aims were to further characterise the clinical presentation of PDSS events, to identify potential risk factors associated with PDSS events and to characterise hospitalisations at baseline and post-baseline. A prospective observational study of adult patients with schizophrenia receiving olanzapine LAI from 24 countries. Data were collected on patient characteristics, olanzapine LAI treatment and any adverse events (AEs). All AEs were reviewed and adjudicated for PDSS using predetermined criteria. There were 46 confirmed PDSS events (0.044% of the 103 505 injections) in 45 patients (1.17% of the 3858 patients). Based on 45 confirmed events with time-to-onset information, 91.1% (n=41) occurred within 1 h of injection. Time-to-recovery from the event was within 72 h for 95.6% of patients (range 6 h to 11 days). Risk factors for PDSS (per-injection) included high dose (odds ratio (OR)high/low=3.95; P=0.006) and male gender (ORfemale/male=0.42; P=0.017). Results of this study confirm previously reported PDSS rates, time to onset and recovery, and the severity of PDSS events, and suggest that higher doses and male gender are potential risk factors associated with PDSS. All authors are full-time employees and hold stock/stock options in Eli Lilly, which funded this study. This post-authorisation safety study (PASS) was proposed by Eli Lilly when submitting the original marketing authorisation application for olanzapine LAI in 2007. The protocol and final study report for this European Union regulatory commitment are publicly accessible via the European Network of Centres for

  12. DOWN SYNDROME WITH MOYAMOYA SYNDROME

    National Research Council Canada - National Science Library

    Mohan Makwana; R. K. Vishnoi; Jai Prakash Soni; Kapil Jetha; Suresh Kumar Verma; Pradeep Singh Rathore; Monika Choudhary

    2017-01-01

    ...,” in which the arterial changes are seen among patients with various syndromes or other disease processes- Down syndrome, sickle cell anaemia, neurofibromatosis type-1, congenital heart disease...

  13. Antisocial Behavioral Syndromes in Adulthood and Alcohol Use Disorder Treatment over Three-Year Follow-Up: Results from Wave 2 of the National Epidemiologic Survey on Alcohol and Related Conditions

    Science.gov (United States)

    Goldstein, Risë B.; Dawson, Deborah A.; Grant, Bridget F.

    2010-01-01

    Background Antisocial personality disorder (ASPD) is associated with poorer treatment outcomes, but more help seeking, for alcohol use disorders (AUDs); however, associations of ASPD with AUD treatment in the general population have not been studied prospectively. Objective To examine prediction of treatment over 3-year follow-up among adults with AUDs by baseline ASPD and syndromal adult antisocial behavior without conduct disorder before age 15 (AABS). Method Face-to-face interviews with 34,653 respondents to the National Epidemiologic Survey on Alcohol and Related Conditions, of whom 3875 had prevalent AUDs between Waves 1 and 2 and ASPD, AABS, or no antisocial syndrome at Wave 1. Results In unadjusted analyses, baseline ASPD predicted AUD treatment but AABS did not. After adjustment for additional need, predisposing, and enabling factors, antisocial syndromes did not predict treatment. Baseline predictors of treatment included more past-year AUD symptoms, and past-year nicotine dependence and AUD treatment. Conclusions That baseline antisocial syndrome did not predict AUD treatment may reflect strong associations of antisociality with previously identified predictors of help seeking. PMID:20838468

  14. Ticagrelor vs. clopidogrel in patients with non-ST-elevation acute coronary syndrome with or without revascularization: results from the PLATO trial

    Science.gov (United States)

    Lindholm, Daniel; Varenhorst, Christoph; Cannon, Christopher P; Harrington, Robert A; Himmelmann, Anders; Maya, Juan; Husted, Steen; Steg, Philippe Gabriel; Cornel, Jan H; Storey, Robert F; Stevens, Susanna R; Wallentin, Lars; James, Stefan K

    2014-01-01

    Aims The optimal platelet inhibition strategy for ACS patients managed without revascularization is unknown. We aimed to evaluate efficacy and safety of ticagrelor vs. clopidogrel in the non-ST-elevation acute coronary syndrome (NSTE-ACS) subgroup of the PLATO trial, in the total cohort, and in the subgroups managed with and without revascularization within 10 days of randomization. Methods and results We performed a retrospective analysis of the primary endpoint of cardiovascular death/myocardial infarction/stroke. Among 18 624 PLATO patients, 11 080 (59%) were categorized as NSTE-ACS at randomization. During the initial 10 days, 74% had angiography, 46% PCI, and 5% CABG. In NSTE-ACS patients, the primary endpoint was reduced with ticagrelor vs. clopidogrel [10.0 vs. 12.3%; hazard ratio (HR) 0.83; 95% confidence interval (CI) = 0.74–0.93], as was myocardial infarction (6.6 vs. 7.7%; HR 0.86; 95% CI = 0.74–0.99), cardiovascular death (3.7 vs. 4.9%; HR 0.77; 95% CI = 0.64–0.93), and all-cause death (4.3 vs. 5.8%; HR 0.76; 95% CI = 0.64–0.90). Major bleeding rate was similar between treatment groups (13.4 vs. 12.6%; HR 1.07; 95% CI = 0.95–1.19), but ticagrelor was associated with an increase in non-CABG major bleeding (4.8 vs. 3.8%; HR 1.28; 95% CI = 1.05–1.56). Within the first 10 days, 5366 (48.4%) patients were managed without revascularization. Regardless of revascularization or not, ticagrelor consistently reduced the primary outcome (HR 0.86 vs. 0.85, interaction P = 0.93), and all-cause death (HR 0.75 vs. 0.73, interaction P = 0.89) with no significant increase in overall major bleeding. Conclusion In patients with NSTE-ACS, benefit of ticagrelor over clopidogrel in reducing ischaemic events and total mortality was consistent with the overall PLATO trial, independent of actually performed revascularization during the initial 10 days. PMID:24727884

  15. Red Blood Cell Transfusion Dependency and Hyperferritinemia Are Associated with Impaired Survival in Patients Diagnosed with Myelodysplastic Syndromes: Results from the First Polish MDS-PALG Registry.

    Science.gov (United States)

    Waszczuk-Gajda, Anna; Mądry, Krzysztof; Machowicz, Rafał; Drozd-Sokołowska, Joanna; Stella-Hołowiecka, Beata; Mital, Andrzej; Obara, Agata; Szmigielska-Kapłon, Anna; Sikorska, Anna; Subocz, Edyta; Jędrzejczak, Wiesław W; Dwilewicz-Trojaczek, Jadwiga

    2016-01-01

    Myelodysplastic syndromes (MDS) are a heterogeneous group of clonal stem cell disorders characterized by ineffective hematopoiesis, cytopenias and a risk of progression to acute myeloid leukemia (AML). Anemia is the most frequent cytopenia diagnosed in patients with MDS. Regular RBC transfusions are the only treatment option for about 40% of patients. Transfusion-dependent patients develop secondary iron overload. The influence of serum ferritin (SF) concentration on survival and acute myeloid leukemia transformation in MDS patients remains controversial. The data for the Central European population is scarce and so far there is no description for Poland. The aim of this study was to perform a retrospective analysis of the relationship of SF concentration with red blood cell transfusion dependency, survival and transformation to acute myeloid leukemia. We retrospectively evaluated the data of the 819 MDS patients (58% male; median age 70 years) included in the MDS Registry of the MDS Section of the Polish Adult Leukemia Group (PALG). Analyses were performed on 190 patients diagnosed with MDS, maximal 6 months before inclusion to the registry in order to avoid selection bias (a shorter survival of higher risk MDS patients). Patients with hyperferritinemia higher than 1000 ng/L vs. patients with SF concentration lower than 1000 ng/L had a median survival of 320 days vs. 568 days, respectively (p log-rank = 0.014). The following factors were found to significantly worsen survival: RBC-transfusion dependence (p = 0.0033; HR 2.67L), platelet transfusion dependence (p = 0.0071; HR 3.321), hemoglobin concentration lower than 10 g/dL (p = 0.0036; HR 2.97), SF concentration higher than 1000 ng/L (p = 0.0023; HR = 2.94), platelet count lower than 10 G/L (p = 0.0081 HR = 5.04), acute leukemia transformation (p = 0.0081; HR 1.968). Taking into account the relatively low number of patients in previous studies exploring hyperferritinemia in MDS, the results of the first Polish

  16. The prevalence trend of metabolic syndrome and its components and risk factors in Korean adults: results from the Korean National Health and Nutrition Examination Survey 2008–2013

    Directory of Open Access Journals (Sweden)

    Binh Thang Tran

    2017-01-01

    Full Text Available Abstract Background Abnormalities in the clinical markers of metabolic syndrome (MS are associated with the development of cardiovascular disease, type 2 diabetes mellitus, and some cancers. MS prevalence in Korea increased between the mid-1990s and mid-2000s; however, no data on the recent trends of MS prevalence are available. Thus, we aimed to investigate the prevalence of MS, the five components of MS, and the related risk factors in Korean adults by using recent data. Methods Data from the Korean National Health and Nutrition Examination Survey conducted between 2008 and 2013 were used. The revised National Cholesterol Education Program criteria were used for defining MS. A multivariate logistic regression analyses was used to estimate the relationship between the related risk factors including behaviors, dietary factors, and the prevalence of MS. Results A total of 34,587 men and women were included in the analysis. Age-adjusted prevalence of MS in 2013 was 28.9% without a significant increasing or decreasing trend between 2008 and 2013. Among the five components of MS, abdominal obesity decreased in both men and women (annual percent change: −2.0 and −2.5%, respectively, the decrease being significant only in women, whereas blood pressure and blood glucose significantly increased in men (+1.9 and +2.7%, respectively. Age and obesity (odds ratio = 6.7, 95% confidence interval = 5.9–7.5 for body mass index ≥25 kg/m2 vs. body mass index <25 kg/m2 were associated with increased MS risk in both men and women. Smoking and alcohol drinking were significantly associated with increased MS risk in men, and association between MS and vitamin D deficiency was at the edge of statistical significance. Higher education and income level were significantly associated with decreased MS risk in women. During this period, smoking rate and physical activity, sodium intake, and serum vitamin D level significantly decreased. Education level

  17. Association Study of Val66Met Polymorphism in Brain-Derived Neurotrophic Factor Gene with Clozapine-Induced Metabolic Syndrome: Preliminary Results

    Science.gov (United States)

    Zhang, Yi; Chen, Meijuan; Wu, Zhiguo; Chen, Jun; Yu, Shunying; Fang, Yiru; Zhang, Chen

    2013-01-01

    The prevalence of the metabolic syndrome (MetS) is higher among patients receiving atypical antipsychotics (AAPs) treatment, and even among AAPs, treatment with clozapine has been shown to be associated with a higher long-term incidence rate of MetS. Likewise, brain-derived neurotrophic factor (BDNF) deficiency has been reported to result in metabolic traits, such as increased food intake, hyperphagia and obesity, etc. In this study, we hypothesized that a functional polymorphism (Val66Met) in the BDNF gene may confer susceptibility to clozapine-induced MetS, potentially in a sex-specific manner, since an interaction between Val66Met polymorphism and sex was observed in our previous studies. A total of 199 schizophrenia patients being treated with clozapine were divided into two groups, MetS and non-MetS, based on the diagnostic criteria of the National Cholesterol Education Program's Adult Treatment Panel III. We genotyped the Val66Met polymorphism, and measured the serum levels of fasting glucose (GLU), triglyceride (TG) and high density lipoprotein cholesterol (HDL). There was a trend indicating a significant association between the homozygous Met/Met genotype and MetS in male patients (OR = 2.39; 95% CI: 1.05–5.41; p = 0.039; corrected p = 0.078). Among the six risk factors listed in the ATPIII criteria, we found a significant association between fasting GLU levels and Val66Met polymorphism in males (p = 0.005; corrected p = 0.03), but not in females (p = 0.65). Post-hoc analysis in males revealed that the Met/Met carriers had significant higher levels of fasting GLU than those with Val/Val or Val/Met genotypes (p = 0.007; corrected p = 0.042 and p = 0.002; corrected p = 0.012, respectively). In conclusion, we observed a weak association between the Val66Met polymorphism and clozapine-induced MetS in a sex-specific manner. While preliminary, such findings prompt further, large-scale longitudinal studies to replicate

  18. Association study of Val66Met polymorphism in brain-derived neurotrophic factor gene with clozapine-induced metabolic syndrome: preliminary results.

    Directory of Open Access Journals (Sweden)

    Yi Zhang

    Full Text Available The prevalence of the metabolic syndrome (MetS is higher among patients receiving atypical antipsychotics (AAPs treatment, and even among AAPs, treatment with clozapine has been shown to be associated with a higher long-term incidence rate of MetS. Likewise, brain-derived neurotrophic factor (BDNF deficiency has been reported to result in metabolic traits, such as increased food intake, hyperphagia and obesity, etc. In this study, we hypothesized that a functional polymorphism (Val66Met in the BDNF gene may confer susceptibility to clozapine-induced MetS, potentially in a sex-specific manner, since an interaction between Val66Met polymorphism and sex was observed in our previous studies. A total of 199 schizophrenia patients being treated with clozapine were divided into two groups, MetS and non-MetS, based on the diagnostic criteria of the National Cholesterol Education Program's Adult Treatment Panel III. We genotyped the Val66Met polymorphism, and measured the serum levels of fasting glucose (GLU, triglyceride (TG and high density lipoprotein cholesterol (HDL. There was a trend indicating a significant association between the homozygous Met/Met genotype and MetS in male patients (OR = 2.39; 95% CI: 1.05-5.41; p = 0.039; corrected p = 0.078. Among the six risk factors listed in the ATPIII criteria, we found a significant association between fasting GLU levels and Val66Met polymorphism in males (p = 0.005; corrected p = 0.03, but not in females (p = 0.65. Post-hoc analysis in males revealed that the Met/Met carriers had significant higher levels of fasting GLU than those with Val/Val or Val/Met genotypes (p = 0.007; corrected p = 0.042 and p = 0.002; corrected p = 0.012, respectively. In conclusion, we observed a weak association between the Val66Met polymorphism and clozapine-induced MetS in a sex-specific manner. While preliminary, such findings prompt further, large-scale longitudinal studies to

  19. Barth Syndrome

    DEFF Research Database (Denmark)

    Saric, Ana; Andreau, Karine; Armand, Anne-Sophie

    2016-01-01

    Mutations in the gene encoding the enzyme tafazzin, TAZ, cause Barth syndrome (BTHS). Individuals with this X-linked multisystem disorder present cardiomyopathy (CM) (often dilated), skeletal muscle weakness, neutropenia, growth retardation, and 3-methylglutaconic aciduria. Biopsies of the heart......, liver and skeletal muscle of patients have revealed mitochondrial malformations and dysfunctions. It is the purpose of this review to summarize recent results of studies on various animal or cell models of Barth syndrome, which have characterized biochemically the strong cellular defects associated...... strong insights into the link between mitochondrial dysfunction and the production of reactive oxygen species (ROS). An important tool has been the generation of BTHS-specific induced pluripotent stem cells (iPSCs) from BTHS patients. In a complementary approach, disease-specific mutations have been...

  20. [Cockayne syndrome].

    Science.gov (United States)

    Wang, Xue-Mei; Cui, Yun-Pu; Liu, Yun-Feng; Wei, Ling; Liu, Hui; Wang, Xin-Li; Zheng, Zhuo-Zhao

    2011-02-01

    Cockayne syndrome is a rare autosomal recessive disease. This paper reports a case of Cockayne syndrome confirmed by gene analysis. The baby (male, 7 years old) was referred to Peking University Third Hospital with recurrent desquamation, pigmentation and growth and development failure for 6 years, and recurrent dental caries and tooth loss for 2 years. Physical examination showed very low body weight, body length and head circumference, yellow hair, a lot of fawn spots on the face, skin dry and less elastic, and subcutaneous lipopenia. He had an unusual appearance with sunken eyes, sharp nose, sharp mandible, big auricle and dental caries and tooth loss. Crura spasticity and ataxia with excessive tendon reflexion, and ankle movement limitation while bending back were observed. He had slured speech. The level of serum insulin like growth factor I was low, and the results of blood and urinary amino acid analysis suggested malnutrition. The results of blood growth hormone, thyroxin, parathyroxin, liver function, renal function, lipoprotein profile and blood glucose and electrolytes were all within normal limit. An electronic hearing examination showed moderate neural hearing loss. The sonogram of eyes revealed small eye axis and vitreous body opacity of right side. MRI of brain revealed bilateral calcification of basal ganglia and generalized cerebral and cerebellar atrophy, and brainstem and callus were also atrophic. Genetic analysis confirmed with CSA gene mutation. So the boy was definitely diagnosed with Cockayne syndrome. He was discharged because of no effective treatment.

  1. Valproic acid silencing of ascl1b/Ascl1 results in the failure of serotonergic differentiation in a zebrafish model of fetal valproate syndrome

    OpenAIRE

    John Jacob; Vanessa Ribes; Steven Moore; Sean C. Constable; Noriaki Sasai; Sebastian S. Gerety; Darren J. Martin; Chris P. Sergeant; David G. Wilkinson; James Briscoe

    2014-01-01

    Fetal valproate syndrome (FVS) is caused by in utero exposure to the drug sodium valproate. Valproate is used worldwide for the treatment of epilepsy, as a mood stabiliser and for its pain-relieving properties. In addition to birth defects, FVS is associated with an increased risk of autism spectrum disorder (ASD), which is characterised by abnormal behaviours. Valproate perturbs multiple biochemical pathways and alters gene expression through its inhibition of histone deacetylases. Which, if...

  2. The Epidemiology of Antisocial Behavioral Syndromes in Adulthood: Results From the National Epidemiologic Survey on Alcohol and Related Conditions-III.

    Science.gov (United States)

    Goldstein, Risë B; Chou, S Patricia; Saha, Tulshi D; Smith, Sharon M; Jung, Jeesun; Zhang, Haitao; Pickering, Roger P; Ruan, W June; Huang, Boji; Grant, Bridget F

    2017-01-01

    To present current, nationally representative US findings on prevalence, correlates, psychiatric comorbidity, disability, and treatment of DSM-5 antisocial personality disorder (ASPD) and adulthood antisocial behavioral syndrome without conduct disorder before 15 years of age (AABS). Face-to-face interviews were conducted with respondents (N = 36,309) in the 2012-2013 National Epidemiologic Survey on Alcohol and Related Conditions-III. DSM-5 alcohol, nicotine, and specific drug use disorders and selected mood, anxiety, trauma-related, eating, and personality disorders were assessed using the Alcohol Use Disorder and Associated Disabilities Interview Schedule-5. Prevalences of ASPD and AABS were 4.3% and 20.3%, respectively, and were highest among male, white, Native American, younger, and unmarried respondents, those with high school or less education, lower incomes, and Western residence. Both antisocial syndromes were significantly associated with 12-month and lifetime substance use, dysthymia/persistent depressive, bipolar I, posttraumatic stress, and borderline and schizotypal personality disorders (odds ratios [ORs] = 1.2-7.0). ASPD was additionally associated with 12-month agoraphobia and lifetime generalized anxiety disorder (ORs = 1.3-1.6); AABS, with 12-month and lifetime major depressive and 12-month generalized anxiety disorders (ORs = 1.2-1.3). Both were associated with significant disability (P < .001 to .01). Most antisocial survey respondents were untreated. One in 4 US adults exhibits syndromal antisocial behavior, with similar sociodemographic and psychiatric correlates and disability regardless of whether onset occurred before 15 years of age, illustrating the clinical and public health significance of both ASPD and AABS. In addition to laying groundwork for estimates of social and economic costs, and further etiologic and nosologic research, these findings highlight the urgency of effectively preventing and treating antisocial syndromes

  3. Unique challenges for appropriate management of a 16-year-old girl with superior mesenteric artery syndrome as a result of anorexia nervosa: a case report

    Directory of Open Access Journals (Sweden)

    Verhoef Philip A

    2009-11-01

    Full Text Available Abstract Introduction Nausea and vomiting in an adolescent, though common presenting symptoms, often pose a diagnostic and therapeutic challenge to the physician. When the diagnosis involves both medical and psychiatric components, management can be complex, especially in the current healthcare system in the United States. To the best of our knowledge, there have been no previous publications detailing successful management of a patient with anorexia nervosa and superior mesenteric artery syndrome. Case presentation We report the case of a 16-year-old Caucasian girl who presented to our emergency department with nausea, abdominal pain, diminished appetite and vomiting. Her history and examination were notable for a 15 kg weight loss and diffuse abdominal tenderness. A barium swallow X-ray with small bowel follow-through and computed tomography scan demonstrated remarkable duodenal narrowing between the superior mesenteric artery and the aorta, consistent with superior mesenteric artery syndrome. Initial management focused on relieving the obstruction and supporting the nutritional needs of the patient. Further history confirmed a diagnosis of anorexia nervosa, requiring intensive psychiatric and medical management, and necessitating a multifaceted approach to patient care involving social work, multiple primary care physicians and subspecialists, insurance company representatives, and the patient's immediate family. Conclusion This case illustrates important points regarding the pathogenesis of superior mesenteric artery syndrome in the setting of anorexia, and it highlights the complexities that arise when managing an adolescent with both medical and psychiatric needs, as well as outlining a viable solution. While superior mesenteric artery syndrome is an uncommon cause of small bowel obstruction, the general pediatrician and child psychiatrist should be aware of this complication of anorexia nervosa.

  4. Metabolic syndrome and migraine

    Directory of Open Access Journals (Sweden)

    Amit eSachdev

    2012-11-01

    Full Text Available Migraine and metabolic syndrome are highly prevaleirnt and costly conditions.The two conditions coexist, but it is unclear what relationship may exist between the two processes. Metabolic syndrome involves a number of findings, including insulin resistance, systemic hypertension, obesity, a proinflammatory state, and a prothrombotic state. Only one study addresses migraine in metabolic syndrome, finding significant differences in the presentation of metabolic syndrome in migraineurs. However, controversy exists regarding the contribution of each individual risk factor to migraine pathogensis and prevalence. It is unclear what treatment implications, if any, exist as a result of the concomitant diagnosis of migraine and metabolic syndrome. The cornerstone of migraine and metabolic syndrome treatments is prevention, relying heavily on diet modification, sleep hygiene, medication use, and exercise.

  5. Metabolic syndrome and migraine.

    Science.gov (United States)

    Sachdev, Amit; Marmura, Michael J

    2012-01-01

    Migraine and metabolic syndrome are highly prevalent and costly conditions. The two conditions coexist, but it is unclear what relationship may exist between the two processes. Metabolic syndrome involves a number of findings, including insulin resistance, systemic hypertension, obesity, a proinflammatory state, and a prothrombotic state. Only one study addresses migraine in metabolic syndrome, finding significant differences in the presentation of metabolic syndrome in migraineurs. However, controversy exists regarding the contribution of each individual risk factor to migraine pathogenesis and prevalence. It is unclear what treatment implications, if any, exist as a result of the concomitant diagnosis of migraine and metabolic syndrome. The cornerstone of migraine and metabolic syndrome treatments is prevention, relying heavily on diet modification, sleep hygiene, medication use, and exercise.

  6. Smoking and colorectal cancer in Lynch syndrome: results from the Colon Cancer Family Registry and the University of Texas M.D. Anderson Cancer Center.

    Science.gov (United States)

    Pande, Mala; Lynch, Patrick M; Hopper, John L; Jenkins, Mark A; Gallinger, Steve; Haile, Robert W; LeMarchand, Loic; Lindor, Noralane M; Campbell, Peter T; Newcomb, Polly A; Potter, John D; Baron, John A; Frazier, Marsha L; Amos, Christopher I

    2010-02-15

    Lynch syndrome family members with inherited germline mutations in DNA mismatch repair (MMR) genes have a high risk of colorectal cancer (CRC), and cases typically have tumors that exhibit a high level of microsatellite instability (MSI). There is some evidence that smoking is a risk factor for CRCs with high MSI; however, the association of smoking with CRC among those with Lynch syndrome is unknown. A multicentered retrospective cohort of 752 carriers of pathogenic MMR gene mutations was analyzed, using a weighted Cox regression analysis, adjusting for sex, ascertainment source, the specific mutated gene, year of birth, and familial clustering. Compared with never smokers, current smokers had a significantly increased CRC risk [adjusted hazard ratio (HR), 1.62; 95% confidence interval (95% CI), 1.01-2.57] and former smokers who had quit smoking for 2 or more years were at decreased risk (HR, 0.53; 95% CI, 0.35-0.82). CRC risk did not vary according to age at starting. However, light smoking (Lynch syndrome may be at increased risk of CRC if they smoke regularly. Although our data suggest that former smokers, short-term smokers, and light smokers are at decreased CRC risk, these findings need further confirmation, preferably using prospective designs.

  7. [THE FIRST RESULTS OF THE PREVALENCE OF CYP2C19 GENEPOLYMORPHISM IN PATIENTS WITH ACUTE CORONARY SYNDROME IN THE AKTYUBINSK POPULATION].

    Science.gov (United States)

    Smagulova, G; Kulmurzaeva, N; Seytmaganbetova, N; Kurmanalina, G; Talipova, I

    2016-04-01

    To study the prevalence of polymorphic variants of CYP2C19 in residents of the Aktyubinsk region, in patients with acute coronary syndrome after percutaneous coronary intervention. We studied included 100 patients with documented acute coronary syndrome, whom stent has been implanted and double antiplatelet therapy (aspirin and clopidogrel) was administered (average age was 49.2). The control group was formed of 255 volunteers without clinical and electrocardiographic manifestations of ischemia, and cardiovascular disease (CVD). In groups of patients and volunteers, most of them were ethnic Kazakhs 67% and 72% respectively. Thus, about 30% of patients CYP2C19*1/*2 acute coronary syndrome who live in Aktobe (Aktobe residents) are under the threat of a possible occurrence of new cardiovascular events due to low sensitivity to clopidogrel. Our study confirms that CYP2C19 G (681A) genotype has impact on antiplatelet effect of clopidogrel. The peculiarity of our work lies in the fact that we were the first who conducted pharmacogenetic study in patients treated with clopidogrel with ACS/PCI in the region inhabited by persons of mixed Slavic and Kazakh nationality.

  8. Compartment Syndrome in Children.

    Science.gov (United States)

    Hosseinzadeh, Pooya; Hayes, Christopher B

    2016-07-01

    Compartment syndrome in children can present differently than adults. Increased analgesic need should be considered the first sign of evolving compartment syndrome in children. Children with supracondylar humerus fractures, floating elbow injuries, operatively treated forearm fractures, and tibia fractures are at high risk for developing compartment syndrome. Elbow flexion beyond 90° in supracondylar humerus fractures and closed treatment of forearm fractures in floating elbow injuries are associated with increased risk of compartment syndrome. Prompt diagnosis and treatment with fasciotomy in children result in excellent long-term outcomes. Copyright © 2016 Elsevier Inc. All rights reserved.

  9. Kindler syndrome

    Directory of Open Access Journals (Sweden)

    Kaviarasan P

    2005-01-01

    Full Text Available Kindler syndrome is a rare autosomal recessive disorder associated with skin fragility. It is characterized by blistering in infancy, photosensitivity and progressive poikiloderma. The syndrome involves the skin and mucous membrane with radiological changes. The genetic defect has been identified on the short arm of chromosome 20. This report describes an 18-year-old patient with classical features like blistering and photosensitivity in childhood and the subsequent development of poikiloderma. The differential diagnosis of Kindler syndrome includes diseases like Bloom syndrome, Cockayne syndrome, dyskeratosis congenita, epidermolysis bullosa, Rothmund-Thomson syndrome and xeroderma pigmentosum. Our patient had classical cutaneous features of Kindler syndrome with phimosis as a complication.

  10. [Assessment of patients' knowledge of first-trimester combined Down syndrome screening at the time of their first trimester ultrasonographic evaluation: Results of a prospective study about 201 women].

    Science.gov (United States)

    de Villardi de Montlaur, D; Desseauve, D; Marechaud, M; Pierre, F

    2016-01-01

    Assess pregnant women's knowledge on first-trimester combined Down syndrome screening, at the time of their first trimester ultrasound scan. A questionnaire was submitted to the patients coming for their 12-week pregnancy ultrasonographic evaluation in a University Hospital prenatal clinic between May 2012 and May 2013. Correct and incorrect statements on Down syndrome screening were proposed to the mothers who were asked to rate them. Each patient was questioned on her prior exposition to Down syndrome screening, the category of medical of professional she previously consulted, and the information she received. Patients' knowledge was evaluated according to these criteria. Two hundred and one patients were included in this study. The average correct answer rating was 4.6 (out of 8 questions). The average incorrect answer rating was 2.4 (out of 6 questions). No difference was found between the different social and demographic groups, nor according to the category of professional consulted before the first ultrasound scan. Higher correct answer ratings were observed when the patient had already been submitted to a Down syndrome screening (P=0.039), when they had previously received explanations about the screening (P=0.003); and when they stated that they had been sufficiently informed (P=0.042). These results show that patients' knowledge on Down syndrome screening is inadequate and depends on their experience of previous screening and information. It is deemed necessary to improve information especially to young women who are pregnant for the first time. Copyright © 2015. Published by Elsevier Masson SAS.

  11. Crush syndrome

    Directory of Open Access Journals (Sweden)

    Emily Lovallo

    2012-09-01

    Full Text Available The first detailed cases of crush syndrome were described in 1941 in London after victims trapped beneath bombed buildings presented with swollen limbs, hypovolemic shock, dark urine, renal failure, and ultimately perished. The majority of the data and studies on this topic still draw from large databases of earthquake victims. However, in Africa, a continent with little seismic activity, the majority of crush syndrome cases are instead victims of severe beatings rather than earthquake casualties, and clinical suspicion by emergency personnel must be high in this patient group presenting with oliguria or pigmenturia. Damaged skeletal muscle fibres and cell membranes lead to an inflammatory cascade resulting in fluid sequestration in the injured extremity, hypotension, hyperkalemia and hypocalcemia and their complications, and renal injury from multiple sources. Elevations in the serum creatinine, creatine kinase (CK, and potassium levels are frequent findings in these patients, and can help guide critical steps in management. Fluid resuscitation should begin prior to extrication of trapped victims or as early as possible, as this basic intervention has been shown to in large part prevent progression of renal injury to requiring haemodialysis. Alkalinization of the urine and use of mannitol for forced diuresis are recommended therapies under specific circumstances and are supported by studies done in animal models, but have not been shown to change clinical outcomes in human crush victims. In the past 70 years the crush syndrome and its management have been studied more thoroughly, however clinical practice guidelines continue to evolve.

  12. Second-Impact Syndrome

    Science.gov (United States)

    Cobb, Sarah; Battin, Barbara

    2004-01-01

    Sports-related injuries are among the more common causes of injury in adolescents that can result in concussion and its sequelae, postconcussion syndrome and second-impact syndrome (SIS). Students who experience multiple brain injuries within a short period of time (hours, days, or weeks) may suffer catastrophic or fatal reactions related to SIS.…

  13. Surgical Treatment of Mirizzi Syndrome

    Directory of Open Access Journals (Sweden)

    Е.М. Goch

    2010-06-01

    Full Text Available The results of treatment of 53 patients with Mirizzi syndrome are presented in the work. The article focuses on the modern classification of syndrome, diagnostics and surgical approach according to the severity of duct damage. Mirizzi syndrome proves to be the complication of cholelithiasis. It is one of the most complicated problems of biliary surgery

  14. Does cheese intake blunt the association between soft drink intake and risk of the metabolic syndrome? Results from the cross-sectional Oslo Health Study

    OpenAIRE

    H?stmark, Arne Torbj?rn; Haug, Anna

    2012-01-01

    Objectives A high soft drink intake may promote, whereas intake of cheese may reduce risk of the metabolic syndrome (MetS), but will cheese intake blunt the soft drink versus MetS association? Design Cross-sectional study. Setting The Oslo Health Study. Participants Among the 18?770 participants of the Oslo Health Study there were 5344 men and 6150 women having data on cheese and soft drink intake and on risk factors for MetS, except for fasting glucose. The MetSRisk index=the weighted sum of...

  15. [Functional results of type A botulinum toxin versus oral anti-inflammatory agents in the rehabilitation of painful shoulder syndrome caused by rotator cuff lesion].

    Science.gov (United States)

    Becerril, Bautista P; Negrete-Corona, J; Chávez-Hinojosa, E

    2014-01-01

    Rotator cuff conditions are characterized by unspecific signs, as well as anatomic alterations and symptoms. They have a multifactorial etiology and may include everything from tendinitis to massive, full thickness tears of the rotator cuff tendon that compromise the normal biomechanics of the involved shoulder. They usually occur in people over 40 years of age but lesions resulting from trauma may vary according to the mechanism of injury and are not directly related with the age at onset of symptoms. Vascular factors have been described as related with rotator cuff tendon damage in conditions affecting the microcirculation. However, recent studies have not proven that the tendon under direct observation shows hypovascularity. Type A botulinum toxin acts by blocking the release of acetylcholine in the neuromuscular plate; in the joints it releases capsular tension and reduces proinflammatory factors such as interleukin-1 (IL-1). There are only a few papers on its intraarticular benefit; in muscle and tendon groups it not only has a muscle relaxant effect, but several publications support its utility for pain management. It has been widely used in the rehabilitation of this group of patients at low doses. Material and methods: Prospective, investigational and longitudinal study involving the follow-up of 24 patients with a diagnosis of painful shoulder syndrome proven clinically and with imaging tests, and caused by rotator cuff lesions. The patients either did not meet the criteria for immediate surgical repair or had already undergone such a repair. Type A botulinum toxin was applied to 12 patients in the subacromial space around the rotator cuff conjoint tendon, as well as in the painful spots and in the muscle contracture in the shoulder. The total dose of Type A botulinum toxin was 200 IU. The control group, also composed of 12 patients, was given a COX-2 oral antiinflammatory agent for 6 weeks (Celecoxib, 100 mg BID). Both groups followed a pre

  16. Syndromic approach to treatment of snake bite in Sri Lanka based on results of a prospective national hospital-based survey of patients envenomed by identified snakes.

    Science.gov (United States)

    Ariaratnam, Christeine A; Sheriff, Mohamed H Rezvi; Arambepola, Carukshi; Theakston, R David G; Warrell, David A

    2009-10-01

    Of 860 snakes brought to 10 hospitals in Sri Lanka with the patients they had bitten, 762 (89%) were venomous. Russell's vipers (Daboia russelii) and hump-nosed pit vipers (Hypnale hypnale) were the most numerous and H. hypnale was the most widely distributed. Fifty-one (6%) were misidentified by hospital staff, causing inappropriate antivenom treatment of 13 patients. Distinctive clinical syndromes were identified to aid species diagnosis in most cases of snake bite in Sri Lanka where the biting species is unknown. Diagnostic sensitivities and specificities of these syndromes for envenoming were 78% and 96% by Naja naja, 66% and 100% by Bungarus caeruleus, 14% and 100% by Daboia russelii, and 10% and 97% by Hypnale hypnale, respectively. Although only polyspecific antivenoms are used in Sri Lanka, species diagnosis remains important to anticipate life-threatening complications such as local necrosis, hemorrhage and renal and respiratory failure and to identify likely victims of envenoming by H. hypnale who will not benefit from existing antivenoms. The technique of hospital-based collection, labeling and preservation of dead snakes brought by bitten patients is recommended for rapid assessment of a country's medically-important herpetofauna.

  17. Contribution of head-up tilt testing and ATP testing in assessing the mechanisms of vasovagal syndrome: preliminary results and potential therapeutic implications.

    Science.gov (United States)

    Flammang, D; Erickson, M; McCarville, S; Church, T; Hamani, D; Donal, E

    1999-05-11

    In patients with vasovagal syndrome, head-up tilt testing may reproduce symptoms generally associated with vasodepression. Recent research suggests ATP testing identifies patients with abnormal vagal cardiac inhibition. This preliminary study examined the joint contribution of both tests in identifying underlying mechanisms in the general population with vasovagal syndrome. Both tests were performed in random order during 1 session and outside of predominant sympathetic periods in 72 patients hospitalized for syncope (n=56) or presyncope (n=16) for whom no cardiac or extracardiac cause was found. For passive and isoproterenol-provocative tilt testing by standard protocol, reproduction of symptoms defined a positive test. The ATP test consisted of injecting ATP 20 mg IV at bedside, continuously monitoring ECG and blood pressure; a vagal cardiac pause >10 seconds defined a positive test. For most patients (64%), >/=1 test was positive. Of the 41 patients (57%) with a positive tilt test (either passive or provoked by isoproterenol), 32% had cardiac disease; none had significant bradycardia (vasovagal symptoms in most patients and that vagal cardiac inhibition increases with age.

  18. Validation of the revised International Prognostic Scoring System in patients with myelodysplastic syndrome in Japan: results from a prospective multicenter registry.

    Science.gov (United States)

    Kawabata, Hiroshi; Tohyama, Kaoru; Matsuda, Akira; Araseki, Kayano; Hata, Tomoko; Suzuki, Takahiro; Kayano, Hidekazu; Shimbo, Kei; Zaike, Yuji; Usuki, Kensuke; Chiba, Shigeru; Ishikawa, Takayuki; Arima, Nobuyoshi; Nogawa, Masaharu; Ohta, Akiko; Miyazaki, Yasushi; Mitani, Kinuko; Ozawa, Keiya; Arai, Shunya; Kurokawa, Mineo; Takaori-Kondo, Akifumi

    2017-05-11

    The Japanese National Research Group on Idiopathic Bone Marrow Failure Syndromes has been conducting prospective registration, central review, and follow-up study for patients with aplastic anemia and myelodysplastic syndrome (MDS) since 2006. Using this database, we retrospectively analyzed the prognosis of patients with MDS. As of May 2016, 351 cases were registered in this database, 186 of which were eligible for the present study. Kaplan-Meier analysis showed that overall survival (OS) curves of the five risk categories stipulated by the revised international prognostic scoring system (IPSS-R) were reasonably separated. 2-year OS rates for the very low-, low-, intermediate-, high-, and very high-risk categories were 95, 89, 79, 35, and 12%, respectively. In the same categories, incidence of leukemic transformation at 2 years was 0, 10, 8, 56, and 40%, respectively. Multivariate analysis revealed that male sex, low platelet counts, increased blast percentage (>2%), and high-risk karyotype abnormalities were independent risk factors for poor OS. Based on these data, we classified Japanese MDS patients who were classified as intermediate-risk in IPSS-R, into the lower risk MDS category, highlighting the need for careful assessment of treatments within low- and high-risk treatment protocols.

  19. [Dependency syndrome].

    Science.gov (United States)

    Vuorisalo, Sailaritta

    2013-01-01

    The most common causes of lower limb edema include cardiac insufficiency, venous insufficiency, insufficiency of lymph flow, and side effects of drugs. It can also be due to dependency syndrome, in which the edema and skin changes can only be explained by a passive calf muscle pump and the resulting venous hypertension. Underlying the drop foot is always immobilization for one reason or other. The patient must be given an explanation about the situation, activated to move if possible, and in any case guided to the use of support stockings and postural therapy.

  20. Olmsted Syndrome

    Directory of Open Access Journals (Sweden)

    Sirka C

    1999-01-01

    Full Text Available A 20-year-old Sikh man had palmoplantar keratoderma, flexion deformity of digits, universal alopecia, keratotic plaques at the angles of mouth, gluteal cleft, knees and dorsal aspects of the metacarpophalangeal joints of the hand; features of Olmsted syndrome. He had normal nails, teeth, oral mucosa and normal joint movements. Treatment with acitretin, 25mg/day for three and a half months, followed by 25mg once daily alternating with 50mg once daily for 3 months resulted in significant improvement.

  1. Avocado consumption is associated with better diet quality and nutrient intake, and lower metabolic syndrome risk in US adults: results from the National Health and Nutrition Examination Survey (NHANES) 2001–2008

    Science.gov (United States)

    2013-01-01

    Background Avocados contain monounsaturated fatty acids (MUFA) dietary fiber, essential nutrients and phytochemicals. However, no epidemiologic data exist on their effects on diet quality, weight management and other metabolic disease risk factors. The objective of this research was to investigate the relationships between avocado consumption and overall diet quality, energy and nutrient intakes, physiological indicators of health, and risk of metabolic syndrome. Methods Avocado consumption and nutrition data were based on 24-hour dietary recalls collected by trained NHANES interviewers using the USDA Automated Multiple Pass Method (AMPM). Physiological data were collected from physical examinations conducted in NHANES Mobile Examination Centers. Diet quality was calculated using the USDA’s Healthy Eating Index-2005. Subjects included 17,567 US adults  ≥ 19 years of age (49% female), including 347 avocado consumers (50% female), examined in NHANES 2001–2008. Least square means, standard errors, and ANOVA were determined using appropriate sample weights, with adjustments for age, gender, ethnicity, and other covariates depending on dependent variable of interest. Results Avocado consumers had significantly higher intakes of vegetables (p avocado consumers. The odds ratio for metabolic syndrome was 50% (95th CI: 0.32-0.72) lower in avocado consumers vs. non-consumers. Conclusions Avocado consumption is associated with improved overall diet quality, nutrient intake, and reduced risk of metabolic syndrome. Dietitians should be aware of the beneficial associations between avocado intake, diet and health when making dietary recommendations. PMID:23282226

  2. Surgical fasciectomy of the trapezius muscle combined with neurolysis of the Spinal accessory nerve; results and long-term follow-up in 30 consecutive cases of refractory chronic whiplash syndrome

    Directory of Open Access Journals (Sweden)

    Freeman Michael

    2010-04-01

    Full Text Available Abstract Background Chronic problems from whiplash trauma generally include headache, pain and neck stiffness that may prove refractory to conservative treatment modalities. As has previously been reported, such afflicted patients may experience significant temporary relief with injections of local anesthetic to painful trigger points in muscles of the shoulder and neck, or lasting symptomatic improvement through surgical excision of myofascial trigger points. In a subset of patients who present with chronic whiplash syndrome, the clinical findings suggest an affliction of the spinal accessory nerve (CN XI, SAN by entrapment under the fascia of the trapezius muscle. The present study was undertaken to assess the effectiveness of SAN neurolysis in chronic whiplash syndrome. Methods A standardized questionnaire and a linear visual-analogue scale graded 0-10 was used to assess disability related to five symptoms (pain, headache, insomnia, weakness, and stiffness before, and one year after surgery in a series of thirty consecutive patients. Results The preoperative duration of symptoms ranged from seven months to 13 years. The following changes in disability scores were documented one year after surgery: Overall pain decreased from 9.5 +/- 0.9 to 3.2 +/- 2.6 (p Conclusions Entrapment of the spinal accessory nerve and/or chronic compartment syndrome of the trapezius muscle may cause chronic debilitating pain after whiplash trauma, without radiological or electrodiagnostic evidence of injury. In such cases, surgical treatment may provide lasting relief.

  3. Dumping Syndrome

    Science.gov (United States)

    ... Intestinal Pseudo-obstruction Irritable Bowel Syndrome (IBS) Definition & Facts Symptoms & Causes Diagnosis Treatment Eating, Diet, & Nutrition Clinical Trials Irritable Bowel Syndrome (IBS) in Children Lactose Intolerance Ménétrier’s Disease Microscopic Colitis Ostomy Surgery of the ...

  4. Piriformis syndrome

    Science.gov (United States)

    Pseudosciatica; Wallet sciatica; Hip socket neuropathy; Pelvic outlet syndrome; Low back pain - piriformis ... Sciatica is the main symptom of piriformis syndrome. Other symptoms include: Tenderness or a dull ache in ...

  5. Alagille Syndrome

    Science.gov (United States)

    ... Liver Tumors Biliary Atresia Cirrhosis of the Liver Galactosemia Gilbert’s Syndrome Diseases of the Liver Glycogen Storage ... Liver Tumors Biliary Atresia Cirrhosis of the Liver Galactosemia Gilbert’s Syndrome Diseases of the Liver Glycogen Storage ...

  6. Reye Syndrome

    Science.gov (United States)

    ... Liver Tumors Biliary Atresia Cirrhosis of the Liver Galactosemia Gilbert’s Syndrome Diseases of the Liver Glycogen Storage ... Liver Tumors Biliary Atresia Cirrhosis of the Liver Galactosemia Gilbert’s Syndrome Diseases of the Liver Glycogen Storage ...

  7. Zellweger Syndrome

    Science.gov (United States)

    ... Zellweger syndrome (ZS, the most severe form), neonatal adrenoleukodystrophy (NALD), and Infantile Refsum disease (IRD, the least ... Zellweger syndrome (ZS, the most severe form), neonatal adrenoleukodystrophy (NALD), and Infantile Refsum disease (IRD, the least ...

  8. Proteus syndrome

    Directory of Open Access Journals (Sweden)

    Criton S

    1995-01-01

    Full Text Available Proteus syndrome is a hamartomatous disorder characterised by focal overgrowths that can involve any structure of the body. An eleven-year-old girl with Proteus syndrome has been described with clitoromegaly.

  9. Overlap syndromes

    NARCIS (Netherlands)

    Beuers, Ulrich; Rust, Christian

    2005-01-01

    In hepatology, the term overlap syndrome describes variant forms of the major hepatobiliary autoimmune diseases, autoimmune hepatitis (AIH), primary biliary cirrhosis (PBC), and primary sclerosing cholangitis (PSC). Patients with overlap syndromes present with both hepatitic and cholestatic

  10. Metabolic Syndrome

    Science.gov (United States)

    Metabolic syndrome is a group of conditions that put you at risk for heart disease and diabetes. These ... doctors agree on the definition or cause of metabolic syndrome. The cause might be insulin resistance. Insulin is ...

  11. Reye Syndrome

    Science.gov (United States)

    Reye syndrome is a rare illness that can affect the blood, liver, and brain of someone who has recently ... a viral illness, seek medical attention immediately. Reye syndrome can lead to a coma and brain death, ...

  12. Usher Syndrome

    Science.gov (United States)

    Usher syndrome is an inherited disease that causes serious hearing loss and retinitis pigmentosa, an eye disorder that causes ... and vision. There are three types of Usher syndrome: People with type I are deaf from birth ...

  13. Turner Syndrome

    Science.gov (United States)

    Turner syndrome is a genetic disorder that affects a girl's development. The cause is a missing or incomplete X ... work properly. Other physical features typical of Turner syndrome are Short, "webbed" neck with folds of skin ...

  14. Felty syndrome

    Science.gov (United States)

    Seropositive rheumatoid arthritis (RA); Felty's syndrome ... The cause of Felty syndrome is unknown. It is more common in people who have had rheumatoid arthritis (RA) for a long time. People with ...

  15. Rett Syndrome

    Science.gov (United States)

    Rett syndrome is a rare genetic disease that causes developmental and nervous system problems, mostly in girls. It's related to autism spectrum disorder. Babies with Rett syndrome seem to grow and develop normally at first. ...

  16. Alport Syndrome

    Science.gov (United States)

    ... body. Many people with Alport syndrome also have hearing problems and abnormalities with their eyes. Other signs and ... and inherited type of Alport syndrome. For example, hearing and vision problems tend to be more common in males than ...

  17. Moebius Syndrome

    Science.gov (United States)

    ... eye sensitivity; motor delays; high or cleft palate; hearing problems and speech difficulties. Children with Moebius syndrome are ... eye sensitivity; motor delays; high or cleft palate; hearing problems and speech difficulties. Children with Moebius syndrome are ...

  18. Heart and Down Syndrome

    Science.gov (United States)

    ... 4602 [email protected] Down Syndrome What Is Down Syndrome? Down Syndrome Facts Myths & Truths Preferred Language Guide Q& ... Helpline » Follow us Down Syndrome What Is Down Syndrome? Down Syndrome Facts Myths & Truths Preferred Language Guide Q& ...

  19. Down Syndrome: Education

    Science.gov (United States)

    ... 4602 [email protected] Down Syndrome What Is Down Syndrome? Down Syndrome Facts Myths & Truths Preferred Language Guide Q& ... Helpline » Follow us Down Syndrome What Is Down Syndrome? Down Syndrome Facts Myths & Truths Preferred Language Guide Q& ...

  20. Dental Issues & Down Syndrome

    Science.gov (United States)

    ... 4602 [email protected] Down Syndrome What Is Down Syndrome? Down Syndrome Facts Myths & Truths Preferred Language Guide Q& ... Helpline » Follow us Down Syndrome What Is Down Syndrome? Down Syndrome Facts Myths & Truths Preferred Language Guide Q& ...

  1. Down Syndrome: Education

    Science.gov (United States)

    ... Our Team Financial Information NDSS History About Down Syndrome Down Syndrome Preferred Language Guide Down Syndrome Facts Down ... Our Team Financial Information NDSS History About Down Syndrome Down Syndrome Down Syndrome Facts Preferred Language Guide Publications ...

  2. Facts About Usher Syndrome

    Science.gov (United States)

    ... Usher Syndrome > Facts About Usher Syndrome Facts About Usher Syndrome This information was developed by the National Eye ... is the best person to answer specific questions. Usher Syndrome Defined What is Usher syndrome? Usher syndrome is ...

  3. International Rett Syndrome Foundation

    Science.gov (United States)

    ... Newsletters & Reports About Rett Syndrome What is Rett Syndrome? Rett Syndrome Diagnosis Boys with MECP2 Clinics FAQs Glossary ... Newsletters & Reports About Rett Syndrome What is Rett Syndrome? Rett Syndrome Diagnosis Boys with MECP2 Clinics FAQs Glossary ...

  4. Partial trisomy of chromosome 22 resulting from a supernumerary marker chromosome 22 in a child with features of cat eye syndrome.

    Science.gov (United States)

    Bélien, Valérie; Gérard-Blanluet, Marion; Serero, Stéphane; Le Dû, Nathalie; Baumann, Clarisse; Jacquemont, Marie-Line; Dupont, Céline; Krabchi, Kada; Drunat, Séverine; Elbez, Annie; Janaud, Jean-Claude; Benzacken, Brigitte; Verloes, Alain; Tabet, Anne-Claude; Aboura, Azzedine

    2008-07-15

    Small supernumerary marker chromosomes are present in about 0.05% of the human population. In approximately 28% of persons with these markers (excluding the approximately 60% derived from one of the acrocentric chromosomes), an abnormal phenotype is observed. We report on a 3-month-old girl with intrauterine growth retardation, craniofacial features, hypotonia, partial coloboma of iris and total anomalous pulmonary venous return. Cytogenetic analysis showed the presence of a supernumerary marker chromosome, identified by fluorescence in situ hybridization as part of chromosome 22, and conferring a proximal partial trisomy 22q22.21, not encompassing the DiGeorge critical region (RP11-154H4 + , TBX1-). This observation adds new information relevant to cat eye syndrome and partial trisomy of 22q. 2008 Wiley-Liss, Inc.

  5. Drug-Induced QT Prolongation as a Result of an Escitalopram Overdose in a Patient with Previously Undiagnosed Congenital Long QT Syndrome

    Directory of Open Access Journals (Sweden)

    Paul Singh

    2014-01-01

    Full Text Available We present a case of drug-induced QT prolongation caused by an escitalopram overdose in a patient with previously undiagnosed congenital LQTS. A 15-year-old Caucasian female presented following a suicide attempt via an escitalopram overdose. The patient was found to have a prolonged QT interval with episodes of torsades de pointes. The patient was admitted to the telemetry unit and treated. Despite the resolution of the torsades de pointes, she continued to demonstrate a persistently prolonged QT interval. She was seen by the cardiology service and diagnosed with congenital long QT syndrome. This case illustrates the potential for an escitalopram overdose to cause an acute QT prolongation in a patient with congenital LQTS and suggests the importance of a screening electrocardiogram prior to the initiation of SSRIs, especially in patients at high risk for QT prolongation.

  6. [Capgras syndrome].

    Science.gov (United States)

    Alcoverro Fortuny, O; Sierra Acín, A C

    2001-01-01

    The authors report a case of Capgras' syndrome in a 16-years-old child, who had been hospitalized for psychotic disorder. A review of the literature is performed. Most authors state that Capgras' syndrome would represent a symptom of underlying medical o functional disorders, although the term syndrome is used. The main etiopathogenic hypothesis of this syndrome are put forward (psychodynamic, disconnection, neuropsychological and medical).

  7. Immediate therapeutic efficacy of low-density lipoprotein apheresis for drug-resistant nephrotic syndrome: evidence from the short-term results from the POLARIS Study.

    Science.gov (United States)

    Muso, Eri; Mune, Masatoshi; Hirano, Tsutomu; Hattori, Motoshi; Kimura, Kenjiro; Watanabe, Tsuyoshi; Yokoyama, Hitoshi; Sato, Hiroshi; Uchida, Shunya; Wada, Takashi; Shoji, Tetsuo; Yuzawa, Yukio; Takemura, Tsukasa; Sugiyama, Satoshi; Nishizawa, Yoshiki; Ogahara, Satoru; Yorioka, Noriaki; Sakai, Soichi; Ogura, Yosuke; Yukawa, Susumu; Iino, Yasuhiko; Imai, Enyu; Matsuo, Seiichi; Saito, Takao

    2015-06-01

    Hyperlipidemia is not merely a complication but a major exacerbating factor in longstanding nephrotic syndrome (NS). Low-density lipoprotein apheresis (LDL-A) has been reported to ameliorate dyslipidemia and induce rapid remission of NS. Several clinical studies have suggested the therapeutic efficacy of LDL-A, but the level of clinical evidence is insufficient. Therefore, a multicenter prospective study, POLARIS (Prospective Observational Survey on the Long-Term Effects of LDL Apheresis on Drug-Resistant Nephrotic Syndrome), was initiated in Japan. Patients with drug-resistant NS were prospectively recruited into the study and treated with LDL-A in facilities that were registered in advance. In the POLARIS study design, the clinical data are to be followed up for 2 years. In the current study, we aimed at evaluating the short-term efficacy based on the treatment outcome of LDL-A immediately after completion of treatment. Along with rapid improvement of hyperlipidemia, LDL-A significantly improved proteinuria and hypoproteinemia after treatment. More than half of the patients showed remission of NS based on the urinary protein level at the completion of LDL-A. The duration of NS before the start of treatment was significantly shorter in patients who responded to LDL-A. An analysis of patients registered in the POLARIS study indicated that LDL-A has short-term efficacy for drug-resistant NS. Rapid relief of dyslipidemia by LDL-A may provide early remission in about half of the NS patients who are resistant to conventional medication. Completion of the POLARIS study may reveal additional long-term effects of LDL-A in these patients.

  8. Myalgic Encephalomyelitis (ME), Chronic Fatigue Syndrome (CFS), and Chronic Fatigue (CF) are distinguished accurately: results of supervised learning techniques applied on clinical and inflammatory data.

    Science.gov (United States)

    Maes, Michael; Twisk, Frank N M; Johnson, Cort

    2012-12-30

    There is much debate on the diagnostic classification of Myalgic Encephalomyelitis (ME), Chronic Fatigue Syndrome (CFS) and chronic fatigue (CF). Post-exertional malaise (PEM) is stressed as a key feature. This study examines whether CF and CFS, with and without PEM, are distinct diagnostic categories. Fukuda's criteria were used to diagnose 144 patients with chronic fatigue and identify patients with CFS and CF, i.e. those not fulfilling the Fukuda's criteria. PEM was rated by means of a scale with defined scale steps between 0 and 6. CFS patients were divided into those with PEM lasting more than 24h (labeled: ME) and without PEM (labeled: CFS). The 12-item Fibromyalgia and Chronic Fatigue Syndrome (FF) Rating Scale was used to measure severity of illness. Plasma interleukin-1 (IL-1), tumor necrosis factor (TNF)α, and lysozyme, and serum neopterin were employed as external validating criteria. Using fatigue, a subjective feeling of infection and PEM we found that ME, CFS, and CF were distinct categories. Patients with ME had significantly higher scores on concentration difficulties and a subjective experience of infection, and higher levels of IL-1, TNFα, and neopterin than patients with CFS. These biomarkers were significantly higher in ME and CFS than in CF patients. PEM loaded highly on the first two factors subtracted from the data set, i.e. "malaise-sickness" and "malaise-hyperalgesia". Fukuda's criteria are adequate to make a distinction between ME/CFS and CF, but ME/CFS patients should be subdivided into ME (with PEM) and CFS (without PEM). Copyright © 2012 Elsevier Ireland Ltd. All rights reserved.

  9. Demyelinating syndrome in SLE encompasses different subtypes: Do we need new classification criteria? Pooled results from systematic literature review and monocentric cohort analysis.

    Science.gov (United States)

    Piga, Matteo; Chessa, Elisabetta; Peltz, Maria Teresa; Floris, Alberto; Mathieu, Alessandro; Cauli, Alberto

    2017-03-01

    To describe features of demyelinating syndrome (DS) in systemic lupus erythematosus (SLE). A systematic review using a combination of Mesh terms in PubMed and a retrospective analysis of 343 adult patients with SLE were carried out to identify patients with DS. Retrieved cases were classified as affected with DS according to 1999 ACR nomenclature and attributed to SLE by applying the 2015 algorithm. DS defined according to the clinical but not temporal 1999 ACR criteria was classified as clinically isolated syndrome (CIS). Estimated prevalence of DS (including CIS) in the SLE cohort was 1.3% and incidence rate was 1.5 cases per 1000 patient-years. Overall, 100 cases from literature review and 4 from SLE cohort were identified and are presented as a whole: 49 (47.1%) were classified as neuromyelitis optica spectrum disorders (NMOSD), 29 (27.9%) as CIS, 14 (13.5%) as NMO, 7 (6.7%) as DS prominently involving the brainstem and 5 (4.8%) as DS prominently involving the brain. DS was the SLE onset manifestation in 41 (39.4%) patients. Longitudinally extensive transverse myelitis was the most frequent manifestations being present in 73 (70.2%) patients (37 NMOSD, 21 CIS, 14 NMO, 1 DSB). Methylprednisolone (79.8%) and cyclophosphamide (55.8%) pulses, but also plasma-exchange (16.3%) and rituximab (7.6%) in relapsing-refractory cases, were mostly prescribed. Complete recovery rate ranged between 62% in CIS to 7% in NMO. DS in SLE is rare (1%) and encompasses different subtypes including CIS. Timely diagnosis and early treatment are recommended to minimize complications. Copyright © 2017 Elsevier B.V. All rights reserved.

  10. The value of daily platelet counts for predicting dengue shock syndrome: Results from a prospective observational study of 2301 Vietnamese children with dengue.

    Directory of Open Access Journals (Sweden)

    Phung Khanh Lam

    2017-04-01

    Full Text Available Dengue is the most important mosquito-borne viral infection to affect humans. Although it usually manifests as a self-limited febrile illness, complications may occur as the fever subsides. A systemic vascular leak syndrome that sometimes progresses to life-threatening hypovolaemic shock is the most serious complication seen in children, typically accompanied by haemoconcentration and thrombocytopenia. Robust evidence on risk factors, especially features present early in the illness course, for progression to dengue shock syndrome (DSS is lacking. Moreover, the potential value of incorporating serial haematocrit and platelet measurements in prediction models has never been assessed.We analyzed data from a prospective observational study of Vietnamese children aged 5-15 years admitted with clinically suspected dengue to the Hospital for Tropical Diseases in Ho Chi Minh City between 2001 and 2009. The analysis population comprised all children with laboratory-confirmed dengue enrolled between days 1-4 of illness. Logistic regression was the main statistical model for all univariate and multivariable analyses. The prognostic value of daily haematocrit levels and platelet counts were assessed using graphs and separate regression models fitted on each day of illness. Among the 2301 children included in the analysis, 143 (6% progressed to DSS. Significant baseline risk factors for DSS included a history of vomiting, higher temperature, a palpable liver, and a lower platelet count. Prediction models that included serial daily platelet counts demonstrated better ability to discriminate patients who developed DSS from others, than models based on enrolment information only. However inclusion of daily haematocrit values did not improve prediction of DSS.Daily monitoring of platelet counts is important to help identify patients at high risk of DSS. Development of dynamic prediction models that incorporate signs, symptoms, and daily laboratory measurements

  11. DDDR pacing results in left ventricular asynchrony with preservation of ejection fraction and NT-proBNP: a prospective study in sick sinus syndrome and normal ventricular function.

    Science.gov (United States)

    Psychari, Stavroula N; Apostolou, Thomas S; Iliodromitis, Efstathios K; Charalampopoulos, Athanasios; Kremastinos, Dimitrios T

    2010-10-08

    Desynchronization induced by right ventricular pacing may increase the risk for heart failure. We aimed to compare left ventricular (LV) function, synchrony and left atrial size along with NT-proBNP levels, in 2 different modes of pacing: AAIR versus DDDR. This was a prospective study of 60 patients with sick sinus syndrome, preserved LV function and normal atrioventricular conduction. Each pacing mode lasted at least 2 months, in every patient, after which period every patient was switched to the alternate pacing mode. Intraventricular asychrony was assessed by: 1) M-Mode septal-to-posterior wall motion delay (SPWMD), and 2) Tissue Doppler imaging (TDI) septal to lateral delay. NT-proBNP was measured at the end of each pacing mode. LV ejection fraction and left atrial diameter were not different in the 2 pacing modes, although asynchrony was induced in the DDDR arm (pAAIR mode (p=0.003, F=9.64). The NT-proBNP was inversely correlated to LV ejection fraction in the DDDR mode (p=0.0001, R=-0.75), whilst it was significantly correlated to the TDI septal-lateral delay and SPWMD (p=0.007, R=0.4 and p=0.002, R=0.5) in the AAIR mode. In conclusion in sick sinus syndrome with preserved LV function the DDDR mode does not compromise LV systolic function although it causes asynchrony. The NT-proBNP is lower when the right ventricle is paced, is inversely related to LV function and it is related to the degree of LV synchronization in the AAIR mode. Copyright © 2009 Elsevier Ireland Ltd. All rights reserved.

  12. Demographics, Management Practices and In-Hospital Outcomes: Results from the HRH Princess Maha Chakri Sirindhorn Medical Center Acute Coronary Syndrome Registry.

    Science.gov (United States)

    Roongsangmanoon, Worawut; Suanklay, Korawat; Angkananard, Teeranan

    2015-11-01

    To determine the demographics and in-hospital outcomes of patients with acute coronary syndrome. It provides a real-life data to assess treatment strategies for acute coronary syndrome (ACS) patients. The prospective study included patients who were hospitalized with the diagnosis of ACS during January to December, 2013. The data were analyzed in terms of characteristics, clinical presentation, treatment, and in-hospital outcomes. A total of 105 patients were enrolled. Mean age of all patients was 73.8 years and half of the patients were older than 70 years old. Twenty patients were classified as ST-segment elevation myocardial infarction (STEMI) and 85 as unstable angina or non-ST-segment elevation myocardial infarction (UA/NSTEMI). Overall prevalence of diabetes was 52.4%. The STEMI group was predominantly male, with a fewer number of diabetes than in UA/NSTEMI group. Eighty percent of the STEMI patients received reperfusion therapy. Primary percutaneous coronary intervention (PCI) was performed in 70% of STEMI patients. The median door-to-needle and door-to-balloon time were 60 and 74 minutes, respectively. Six of fourteen primary PCI patients received it after 90 minutes. Nearly half of UA/NSTEMI patients went to coronary angiography and about one-third of them received revascularization with either PCI or coronary artery bypass grafting. The total mortality rate was 15% in both the STEMI patients and the UA/NSTEMI patients. This registry provided a detail of demographics, management practices, and in hospital outcomes of ACS patients. Door-to-needle time and door-to-balloon time were considered as suboptimal. In-hospital mortality was higher than the latest national average. Patient delay should be improved by giving more education to the general public and concerted effort to improve in-hospital time delay is warranted. These data have an impact on our patient care system and alert our team to improve patient care.

  13. Haim-Munk syndrome

    Directory of Open Access Journals (Sweden)

    Pahwa Priyanka

    2010-01-01

    Full Text Available Haim-Munk syndrome is an extremely rare autosomal recessive disorder of keratinization characterized clinically by palmoplantar hyperkeratosis, severe early onset periodontitis, onychogryphosis, pes planus, arachnodactyly, and acro-osteolysis. Recently, germline mutations in the lysosomal protease cathepsin C gene have been identified as the underlying genetic defect in Haim-Munk syndrome and in the clinically related disorders, such as Papillon-Lefθvre syndrome and prepubertal periodontitis. The periodontal disease associated with these syndromes is particularly aggressive and unresponsive to traditional periodontal therapies. As a result, most patients become edentulous by 15 years of age. This case report describes a patient with the cardinal features of Haim-Munk syndrome.

  14. Metabolic Syndrome

    Science.gov (United States)

    ... much saturated fat, and does not get enough physical activity may develop metabolic syndrome. Other causes include insulin resistance and a family ... you’re overweight. It also includes getting more physical activity and eating a ... syndrome treatment If you already have metabolic syndrome, making ...

  15. Goodpasture Syndrome

    Science.gov (United States)

    ... necessary. Eating, Diet, and Nutrition Eating, diet, and nutrition have not been shown to play a role in causing or preventing Goodpasture syndrome. Points to Remember Goodpasture syndrome is a pulmonary-renal syndrome, which is a group of acute illnesses ...

  16. [Reye's syndrome].

    Science.gov (United States)

    Yoshida, I

    2000-11-01

    A nationwide survey on Reye's syndrome(RS) was described. And problems between RS and influenza virus such as etiology, pathophysiology, differential diagnosis and epidemiology were reviewed. So-called aspirin issue on RS was re-evaluated according to recent advance of RS research. Finally future aspect of Reye's syndrome was also discussed.

  17. Reye's Syndrome

    Science.gov (United States)

    ... Page You are here Home » Disorders » All Disorders Reye's Syndrome Information Page Reye's Syndrome Information Page What research is being done? Much ... Information from the National Library of Medicine’s MedlinePlus Reye's Syndrome × What research is being done? Much of the ...

  18. [Cardiorenal syndrome].

    Science.gov (United States)

    Salleck, D; John, S

    2017-09-13

    Patients in the intensive care unit often suffer from cardiorenal syndrome, which can have an important influence on the patient's outcome. The heart and kidney influence each other via organ crosstalk. We screened and evaluated current publications on cardiorenal syndromes and their therapy. A key role in the management of cardiorenal syndromes is renal decongestion via loop diuretics.

  19. Plummer-Vinson syndrome

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    Novacek Gottfried

    2006-09-01

    Full Text Available Abstract Plummer-Vinson or Paterson-Kelly syndrome presents as a classical triad of dysphagia, iron-deficiency anemia and esophageal webs. Exact data about epidemiology of the syndrome are not available; the syndrome is extremely rare. Most of the patients are white middle-aged women, in the fourth to seventh decade of life but the syndrome has also been described in children and adolescents. The dysphagia is usually painless and intermittent or progressive over years, limited to solids and sometimes associated with weight loss. Symptoms resulting from anemia (weakness, pallor, fatigue, tachycardia may dominate the clinical picture. Additional features are glossitis, angular cheilitis and koilonychia. Enlargement of the spleen and thyroid may also be observed. One of the most important clinical aspects of Plummer-Vinson syndrome is the association with upper alimentary tract cancers. Etiopathogenesis of Plummer-Vinson syndrome is unknown. The most important possible etiological factor is iron deficiency. Other possible factors include malnutrition, genetic predisposition or autoimmune processes. Plummer-Vinson syndrome can be treated effectively with iron supplementation and mechanical dilation. In case of significant obstruction of the esophageal lumen by esophageal web and persistent dysphagia despite iron supplementation, rupture and dilation of the web are necessary. Since Plummer-Vinson syndrome is associated with an increased risk of squamous cell carcinoma of the pharynx and the esophagus, the patients should be followed closely.

  20. Metabolic syndrome and menopause

    Directory of Open Access Journals (Sweden)

    Jouyandeh Zahra

    2013-01-01

    Full Text Available Abstract Background The metabolic syndrome is defined as an assemblage of risk factors for cardiovascular diseases, and menopause is associated with an increase in metabolic syndrome prevalence. The aim of this study was to assess the prevalence of metabolic syndrome and its components among postmenopausal women in Tehran, Iran. Methods In this cross-sectional study in menopause clinic in Tehran, 118 postmenopausal women were investigated. We used the adult treatment panel 3 (ATP3 criteria to classify subjects as having metabolic syndrome. Results Total prevalence of metabolic syndrome among our subjects was 30.1%. Waist circumference, HDL-cholesterol, fasting blood glucose, diastolic blood pressure ,Systolic blood pressure, and triglyceride were significantly higher among women with metabolic syndrome (P-value Conclusions Our study shows that postmenopausal status is associated with an increased risk of metabolic syndrome. Therefore, to prevent cardiovascular disease there is a need to evaluate metabolic syndrome and its components from the time of the menopause.

  1. Muir-Torre Syndrome

    Science.gov (United States)

    ... With a Genetic Counselor Collecting Your Family Cancer History Sharing Genetic Test Results with Your Family Additional Resources Colon Cancer Alliance www.ccalliance.org Lynch Syndrome International www. ...

  2. Computer Vision Syndrome.

    Science.gov (United States)

    Randolph, Susan A

    2017-07-01

    With the increased use of electronic devices with visual displays, computer vision syndrome is becoming a major public health issue. Improving the visual status of workers using computers results in greater productivity in the workplace and improved visual comfort.

  3. Jacobsen syndrome.

    Science.gov (United States)

    Mattina, Teresa; Perrotta, Concetta Simona; Grossfeld, Paul

    2009-03-07

    Jacobsen syndrome is a MCA/MR contiguous gene syndrome caused by partial deletion of the long arm of chromosome 11. To date, over 200 cases have been reported. The prevalence has been estimated at 1/100,000 births, with a female/male ratio 2:1. The most common clinical features include pre- and postnatal physical growth retardation, psychomotor retardation, and characteristic facial dysmorphism (skull deformities, hypertelorism, ptosis, coloboma, downslanting palpebral fissures, epicanthal folds, broad nasal bridge, short nose, v-shaped mouth, small ears, low set posteriorly rotated ears). Abnormal platelet function, thrombocytopenia or pancytopenia are usually present at birth. Patients commonly have malformations of the heart, kidney, gastrointestinal tract, genitalia, central nervous system and skeleton. Ocular, hearing, immunological and hormonal problems may be also present. The deletion size ranges from approximately 7 to 20 Mb, with the proximal breakpoint within or telomeric to subband 11q23.3 and the deletion extending usually to the telomere. The deletion is de novo in 85% of reported cases, and in 15% of cases it results from an unbalanced segregation of a familial balanced translocation or from other chromosome rearrangements. In a minority of cases the breakpoint is at the FRA11B fragile site. Diagnosis is based on clinical findings (intellectual deficit, facial dysmorphic features and thrombocytopenia) and confirmed by cytogenetics analysis. Differential diagnoses include Turner and Noonan syndromes, and acquired thrombocytopenia due to sepsis. Prenatal diagnosis of 11q deletion is possible by amniocentesis or chorionic villus sampling and cytogenetic analysis. Management is multi-disciplinary and requires evaluation by general pediatrician, pediatric cardiologist, neurologist, ophthalmologist. Auditory tests, blood tests, endocrine and immunological assessment and follow-up should be offered to all patients. Cardiac malformations can be very severe

  4. Jacobsen syndrome

    Directory of Open Access Journals (Sweden)

    Grossfeld Paul

    2009-03-01

    Full Text Available Abstract Jacobsen syndrome is a MCA/MR contiguous gene syndrome caused by partial deletion of the long arm of chromosome 11. To date, over 200 cases have been reported. The prevalence has been estimated at 1/100,000 births, with a female/male ratio 2:1. The most common clinical features include pre- and postnatal physical growth retardation, psychomotor retardation, and characteristic facial dysmorphism (skull deformities, hypertelorism, ptosis, coloboma, downslanting palpebral fissures, epicanthal folds, broad nasal bridge, short nose, v-shaped mouth, small ears, low set posteriorly rotated ears. Abnormal platelet function, thrombocytopenia or pancytopenia are usually present at birth. Patients commonly have malformations of the heart, kidney, gastrointestinal tract, genitalia, central nervous system and skeleton. Ocular, hearing, immunological and hormonal problems may be also present. The deletion size ranges from ~7 to 20 Mb, with the proximal breakpoint within or telomeric to subband 11q23.3 and the deletion extending usually to the telomere. The deletion is de novo in 85% of reported cases, and in 15% of cases it results from an unbalanced segregation of a familial balanced translocation or from other chromosome rearrangements. In a minority of cases the breakpoint is at the FRA11B fragile site. Diagnosis is based on clinical findings (intellectual deficit, facial dysmorphic features and thrombocytopenia and confirmed by cytogenetics analysis. Differential diagnoses include Turner and Noonan syndromes, and acquired thrombocytopenia due to sepsis. Prenatal diagnosis of 11q deletion is possible by amniocentesis or chorionic villus sampling and cytogenetic analysis. Management is multi-disciplinary and requires evaluation by general pediatrician, pediatric cardiologist, neurologist, ophthalmologist. Auditory tests, blood tests, endocrine and immunological assessment and follow-up should be offered to all patients. Cardiac malformations can be

  5. Cross-sectional and longitudinal associations between serum uric acid and metabolic syndrome: Results from Fangchenggang Area Male Health and Examination Survey in China.

    Science.gov (United States)

    Chen, Dongni; Zhang, Haiying; Gao, Yong; Lu, Zheng; Yao, Ziting; Jiang, Yonghua; Lin, Xinggu; Wu, Chunlei; Yang, Xiaobo; Tan, Aihua; Mo, Zengnan

    2015-06-15

    It is controversial whether serum uric acid (SUA) is a risk factor for the prevalence of metabolic syndrome (MetS). The current study was designed to highlight the association of SUA and MetS and its components. Data on 3675 healthy male subjects, aged 17-88 years, were collected for the cross-sectional study. A representative sample of 2575 individuals who did not suffer from MetS at baseline was involved in the cohort study. A cox regression model was applied to evaluate causality for the 2- and 4-year large scale longitudinal study. In the cross-sectional analysis, SUA showed a statistically significant negative correlation with high-density lipoprotein cholesterol (HDL-c) and a positive correlation with blood pressure (BP), triglycerides (TG), waist circumference (WC), and body mass index (BMI) (all P<0.001). In longitudinal analysis, examining the risk of developing MetS, SUA concentrations (hazard ratios comparing fourth quartile to the first quartile of 1.75; 95% CI, 1.26-2.41) were positively associated with incident MetS after adjusted for age, blood pressure, glucose, TG, HDL-c, smoking, alcohol drinking and education. SUA is positively correlated with the prevalence of MetS. Increased SUA concentration may be an independent risk factor for MetS. Copyright © 2015. Published by Elsevier B.V.

  6. Comparison of Therapeutic Efficacy and Urodynamic Findings of Solifenacin Succinate versus Mirabegron in Women with Overactive Bladder Syndrome: Results of a Randomized Controlled Study.

    Science.gov (United States)

    Vecchioli Scaldazza, Carlo; Morosetti, Carolina

    2016-01-01

    We assessed clinical and urodynamic effects of solifenacin versus mirabegron in women with overactive bladder (OAB) syndrome. Eighty women with OAB were randomized into 2 groups. In group A, the patients received solifenacin 5 mg once a day for 12 weeks; in group B, the patients received mirabegron 50 mg once a day for 12 weeks. Symptoms were assessed with OAB Symptom Score (OABSS). Patients underwent urodynamic investigation with pressure flow study. OABSS and urodynamic study were performed before and after treatment. Both solifenacin and mirabegron were effective in improving OAB symptoms. Mirabegron showed greater tolerability with fewer patients discontinuing therapy because of side effects. Both solifenacin and mirabegron were effective in improving the storage function in the pressure flow study, but solifenacin showed a significant reduction of the detrusor pressure in the voiding phase with an increase in the postvoid residual urine volume. Mirabegron has shown to be a drug with the better balance between efficacy and tolerability in women with OAB. © 2016 S. Karger AG, Basel.

  7. Does pioglitazone improve depression through insulin-sensitization? Results of a randomized double-blind metformin-controlled trial in patients with polycystic ovarian syndrome and comorbid depression.

    Science.gov (United States)

    Kashani, Ladan; Omidvar, Targol; Farazmand, Behnoud; Modabbernia, Amirhossein; Ramzanzadeh, Fatemeh; Tehraninejad, Ensiyeh Shahrokh; Ashrafi, Mandana; Tabrizi, Mina; Akhondzadeh, Shahin

    2013-06-01

    Thiazolidinediones have shown beneficial effects in short-term treatment of depression. However, it is unclear whether the antidepressant efficacy of these agents is related to their insulin-sensitizing action. We conducted the present study to compare the antidepressant efficacy of pioglitazone with another insulin-sensitizer, metformin, in obese patients with concomitant polycystic ovarian syndrome (PCOS) and major depressive disorder (MDD). In a six-week double-blind study, 50 patients with PCOS and MDD (DSM-IV-TR criteria) with Hamilton depression rating scale (HDRS) score of pioglitazone (15 mg twice daily; PO) or metformin (750 mg twice daily; PO). Assessment was done using HDRS (weeks 0, 3, 6) together with fasting Insulin, glucose, and lipid profile, liver enzymes, homeostatic model assessment of insulin resistance (HOMA-IR), anthropometric measures, and serum androgens (weeks 0 and 6). Pioglitazone was superior to metformin in reducing HDRS scores at the end of the study [38.3% versus 8.3% reduction from baseline scores, F(1, 37) = 73.513, Ppioglitazone independent of HOMA-IR values predicted greater score reduction on HDRS at week 6 (standardized beta = 0.801, PMetformin was associated with higher frequency of gastrointestinal side effects (P = 0.014). In summary, we showed that pioglitazone improved depression with mechanisms largely unrelated to its insulin-sensitizing action (registration number: IRCT201106081556N23). Copyright © 2012 Elsevier Ltd. All rights reserved.

  8. Obesity explains gender differences in the association between education level and metabolic syndrome in South Korea: the results from the Korean National Health and Nutrition Examination Survey 2010.

    Science.gov (United States)

    Ko, Ki Dong; Cho, BeLong; Lee, Won Chul; Lee, Hae Won; Lee, Hyun Ki; Oh, Bum Jo

    2015-03-01

    This study aimed to examine the association of educational level with metabolic syndrome (MS) and its risk factors by gender in South Korea. A total of 6178 participants aged 20 years or older from The Fifth Korean National Health and Nutrition Examination Survey were included in this study. A generalized linear model and adjusted proportion were used to identify educational disparities in MS, its components, and its risk factors (smoking, high-risk alcohol consumption, obesity, and stress). In women, a clearly inverse association between education level and MS were observed with significant trend, and the decreasing trends of all risk factors across education quartiles were in line with the inverse association. However, the association between education level and MS was not observed with a significant trend among men. An opposite trend of risk factors across education levels was shown in men, with an increasing trend for obesity and decreasing trends for smoking and high-risk alcohol consumption. These findings demonstrate that obesity can explain gender differences in the association between education level and MS in South Korea. © 2013 APJPH.

  9. Should Posterior Reversible Encephalopathy Syndrome Be Mainly Considered an Epileptic Disorder? Results of a Sequential Neurophysiological Study in a Pediatric Cohort.

    Science.gov (United States)

    Grioni, Daniele; Pavan, Fabio; Prunotto, Giulia; Canonico, Francesco; Grandi, Carlo de; Rovelli, Attilio

    2017-04-01

    Despite a wide number of studies trying to define clinical, physiopathological, and neuroradiological features of posterior reversible encephalopathy syndrome (PRES), the true nature of symptoms is still not fully understood. We studied a standard cohort of 24 pediatric patients, affected by hemato-oncological diseases, with a neuroradiological diagnosis consistent with PRES identified from 2006 to 2013. Ten of them developed PRES after hematopoietic stem cell transplantation. We analyzed the sequence of clinical, radiological, and electrophysiological data. In all the patients who were recorded at the onset of the first symptoms, electroencephalograms showed focal nonconvulsive seizures or status epilepticus (SE). We found a sensitivity of 100% for electroencephalogram (EEG) with a good correlation between clinical signs and the localization of seizures, whereas computed tomography scans showed a sensitivity of 50% only. Following prompt treatment, intensive care unit admission rate was only 8%. PRES is a multifactorial neurologic event with focal nonconvulsive seizures or SE as the main feature in pediatric patients. Clinical manifestations are epileptic in nature, and prompt EEG recording is useful for diagnosis and supports an earlier treatment, potentially preventing the appearance of complications such as generalized seizures or refractory SE. Georg Thieme Verlag KG Stuttgart · New York.

  10. Clinical trial: lubiprostone in patients with constipation-associated irritable bowel syndrome--results of two randomized, placebo-controlled studies.

    Science.gov (United States)

    Drossman, D A; Chey, W D; Johanson, J F; Fass, R; Scott, C; Panas, R; Ueno, R

    2009-02-01

    Effective treatments for irritable bowel syndrome with constipation (IBS-C) are lacking. To assess the efficacy and safety of lubiprostone in IBS-C. A combined analysis was performed among 1171 patients with a Rome II diagnosis of IBS-C in two phase-3 randomized trials of lubiprostone 8 mcg vs. placebo twice daily for 12 weeks. Using a balanced seven-point Likert scale ranging from significantly relieved (+3), to significantly worse (-3), patients responded on their electronic diary to the question: 'How would you rate your relief of IBS symptoms over the past week compared to how you felt before you entered the study?'. The primary efficacy endpoint was the percentage of overall responders. Using an intent-to-treat analysis with last observation carried forward, a significantly higher percentage of lubiprostone-treated patients were considered overall responders compared with those treated with placebo (17.9% vs. 10.1%, P=0.001). Patients treated with lubiprostone reported a similar incidence of adverse events to those treated with placebo. The percentage of overall responders based on patient-rated assessments of IBS-C symptoms was significantly improved in patients treated with lubiprostone 8 mcg twice daily compared to those treated with placebo. Lubiprostone was well tolerated with a favourable safety profile.

  11. Weekend Versus Weekday, Morning Versus Evening Admission in Relationship to Mortality in Acute Coronary Syndrome Patients in 6 Middle Eastern Countries: Results from Gulf Race 2 Registry

    Science.gov (United States)

    Al-Lawati, Jawad A; Al-Zakwani, Ibrahim; Sulaiman, Kadhim; Al-Habib, Khalid; Al Suwaidi, Jassim; Panduranga, Prashanth; Alsheikh-Ali, Alawi A; Almahmeed, Wael; Al Faleh, Husam; Al Saif, Shukri; Hersi, Ahmad; Asaad, Nidal; Al-Motarreb, Ahmed; Mikhailidis, Dimitri P; Amin, Haitham

    2012-01-01

    We used prospective cohort data of patients with acute coronary syndrome (ACS) to compare their management on weekdays/mornings with weekends/nights, and the possible impact of this on 1-month and 1-year mortality. Analyses were evaluated using univariate and multivariate statistics. Of the 4,616 patients admitted to hospitals with ACS, 76% were on weekdays. There were no significant differences in 1-month (odds ratio (OR), 0.88; 95% CI: 0.68-1.14) and 1-year mortality (OR, 0.88; 95% CI: 0.70-1.10), respectively, between weekday and weekend admissions. Similarly, there were no significant differences in 1-month (OR, 0.92; 95% CI: 0.73-1.15) and 1-year mortality (OR, 0.98; 95% CI: 0.80-1.20), respectively, between nights and day admissions. In conclusion, apart from lower utilization of angiography (P < .001) at weekends, there were largely no significant discrepancies in the management and care of patients admitted with ACS on weekdays and during morning hours compared with patients admitted on weekends and night hours, and the overall 30-day and 1-year mortality was similar between both the cohorts. PMID:23002404

  12. High-risk plaque detected on coronary CT angiography predicts acute coronary syndromes independent of significant stenosis in acute chest pain: results from the ROMICAT-II trial.

    Science.gov (United States)

    Puchner, Stefan B; Liu, Ting; Mayrhofer, Thomas; Truong, Quynh A; Lee, Hang; Fleg, Jerome L; Nagurney, John T; Udelson, James E; Hoffmann, Udo; Ferencik, Maros

    2014-08-19

    It is not known whether high-risk plaque, as detected by coronary computed tomography angiography (CTA), permits improved early diagnosis of acute coronary syndromes (ACS) independently to the presence of significant coronary artery disease (CAD) in patients with acute chest pain. The primary aim of this study was to determine whether high-risk plaque features, as detected by CTA in the emergency department (ED), may improve diagnostic certainty of ACS independently and incrementally to the presence of significant CAD and clinical risk assessment in patients with acute chest pain but without objective evidence of myocardial ischemia or myocardial infarction (MI). We included patients randomized to the coronary CTA arm of the ROMICAT-II (Rule Out Myocardial Infarction/Ischemia Using Computer-Assisted Tomography II) trial. Readers assessed coronary CTA qualitatively for the presence of nonobstructive CAD (1% to 49% stenosis), significant CAD (≥50% or ≥70% stenosis), and the presence of at least 1 of the high-risk plaque features (positive remodeling, low acute chest pain but negative initial electrocardiogram and troponin, presence of high-risk plaques on coronary CTA increased the likelihood of ACS independent of significant CAD and clinical risk assessment (age, sex, and number of cardiovascular risk factors). (Multicenter Study to Rule Out Myocardial Infarction by Cardiac Computed Tomography [ROMICAT-II]; NCT01084239). Copyright © 2014 American College of Cardiology Foundation. Published by Elsevier Inc. All rights reserved.

  13. Repeated collection of conjoined oocytes from a patient with polycystic ovary syndrome, resulting in one successful live birth from frozen thawed blastocyst transfer: a case report.

    Science.gov (United States)

    Yano, Kohji; Hashida, Naoko; Kubo, Toshiko; Ohashi, Ikuko; Koizumi, Azusa; Kageura, Rumi; Furutani, Kouichi; Yano, Chieko

    2017-08-05

    Few cases have been reported in which the aspiration of a single follicle led to the recovery of two conjoined oocytes surrounded by a single zona pellucida. This report describes a successful embryo transfer with subsequent live birth derived from conjoined oocytes, and a later pair of conjoined oocytes in the same patient. After oocyte retrieval from a patient with polycystic ovary syndrome, two pairs of conjoined oocytes were collected. One oocyte was fertilized using in vitro fertilization (IVF) and developed to the blastocyst stage. This blastocyst was cryopreserved and later transferred to the uterus after separating the unfertilized conjoined oocyte. A successful pregnancy and healthy live birth was achieved. Two years later, the patient returned for a second IVF; one pair of conjoined oocytes was detected. One of the pair was fertilized and developed to a blastocyst, but was not transferred. We demonstrate that selective fertilization of a mature oocyte from conjoined oocytes by IVF can lead to the development of a blastocyst and subsequent pregnancy and live birth. To our knowledge, this is the second case report of successful live birth from conjoined oocytes. It may be the first case of repeated fertile conjoined oocytes from the same patient.

  14. Spiritual well-being, religious activity, and the metabolic syndrome: results from the Hispanic Community Health Study/Study of Latinos Sociocultural Ancillary Study.

    Science.gov (United States)

    Brintz, Carrie E; Birnbaum-Weitzman, Orit; Llabre, Maria M; Castañeda, Sheila F; Daviglus, Martha L; Gallo, Linda C; Giachello, Aida L; Kim, Ryung S; Lopez, Lenny; Teng, Yanping; Penedo, Frank J

    2017-12-01

    Sociocultural risk and protective factors for developing the metabolic syndrome (MetS), a risk factor for cardiovascular disease (CVD), have not been well studied in Hispanics/Latinos residing in the United States (U.S.). Religiosity and/or spirituality (R/S), important aspects of Hispanic/Latino culture, have been inversely associated with CVD and multiple CVD risk factors. Cross-sectional associations between dimensions of R/S and prevalent MetS, and its five individual components were examined using multiple logistic and linear regression, among 3278 U.S., middle-aged and older Hispanic/Latino adults from the Hispanic Community Health Study/Study of Latinos Sociocultural Ancillary Study. Dimensions of R/S were not associated with presence of the MetS. Certain dimensions of Spiritual Well-being (Meaning, Peace, Faith), and frequency of non-organizational religious activity were weakly but significantly associated with one or more MetS components including waist circumference, diastolic blood pressure, and systolic blood pressure. R/S variables were not associated with triglycerides, fasting glucose or HDL cholesterol levels. Prospective, longitudinal studies are needed to gain a deeper understanding of the nature of the relationship between R/S and health risk factors in U.S. Hispanics/Latinos.

  15. Drug-Induced Hematologic Syndromes

    Directory of Open Access Journals (Sweden)

    David M. Mintzer

    2009-01-01

    Full Text Available Objective. Drugs can induce almost the entire spectrum of hematologic disorders, affecting white cells, red cells, platelets, and the coagulation system. This paper aims to emphasize the broad range of drug-induced hematological syndromes and to highlight some of the newer drugs and syndromes. Methods. Medline literature on drug-induced hematologic syndromes was reviewed. Most reports and reviews focus on individual drugs or cytopenias. Results. Drug-induced syndromes include hemolytic anemias, methemoglobinemia, red cell aplasia, sideroblastic anemia, megaloblastic anemia, polycythemia, aplastic anemia, leukocytosis, neutropenia, eosinophilia, immune thrombocytopenia, microangiopathic syndromes, hypercoagulability, hypoprothrombinemia, circulating anticoagulants, myelodysplasia, and acute leukemia. Some of the classic drugs known to cause hematologic abnormalities have been replaced by newer drugs, including biologics, accompanied by their own syndromes and unintended side effects. Conclusions. Drugs can induce toxicities spanning many hematologic syndromes, mediated by a variety of mechanisms. Physicians need to be alert to the potential for iatrogenic drug-induced hematologic complications.

  16. HEPATORENAL SYNDROME

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    Matjaž Hafner

    2001-12-01

    Full Text Available Background. Hepatorenal syndrome (HRS is acommon complication of advanced hepatic disease characterizedby marked abnormalities in arterial circulation and byrenal failure. An extreme arteriolar vasodilatation located inthe splanchnic circulation results in a reduction of total systemicvascular resistence and arterial hypotension. Vasoconstrictionoccurs in the renal circulation as in all other extrasplanchnicvascular territories. In the kidney, marked renalvasoconstriction results in a low glomerular filtration rate.Conclusions. The diagnosis of HRS is currently based on exclusionof other causes of renal failure. Prognosis of patientswith HRS is very poor. Liver transplantation is the best therapeuticoption, but it is seldom applicable due to the short survivalexpectancy of most patients with HRS, particularly thosewith the rapidly progressive type of HRS. New therapies developedduring the last few years, such as the use of systemicvasoconstrictors or transjugular intrahepatic portosystemicshunts (TIPS appear promising. Such treatments are of interestnot only as a bridge to liver transplantation but also as atherapy for patients who are not candidates for transplantation.

  17. DOWN SYNDROME WITH MOYAMOYA SYNDROME

    Directory of Open Access Journals (Sweden)

    Mohan Makwana

    2017-04-01

    Full Text Available BACKGROUND Moyamoya disease is a disorder of blood vessels in the brain, specifically the internal carotid arteries and the arteries that branch from them. The primary idiopathic form “moyamoya disease” has been distinguished from an associated form of “moyamoya syndrome,” in which the arterial changes are seen among patients with various syndromes or other disease processes- Down syndrome, sickle cell anaemia, neurofibromatosis type-1, congenital heart disease, fibromuscular dysplasia, activated protein C resistance, or head trauma. There have been only 47 previous cases of moyamoya syndrome in association with Down syndrome reported in the world literature. Recently, we have come across a Case of Downs’ Syndrome with Moyamoya Syndrome. Because of its rarity we want to report our case.

  18. Adult-onset deletion of the Prader-Willi syndrome susceptibility gene Snord116 in mice results in reduced feeding and increased fat mass.

    Science.gov (United States)

    Purtell, Louise; Qi, Yue; Campbell, Lesley; Sainsbury, Amanda; Herzog, Herbert

    2017-04-01

    The imprinted small nucleolar RNA (snoRNA) Snord116 is implicated in the aetiology of Prader-Willi syndrome (PWS), a disease associated with hyperphagia and obesity. Germline deletion of Snord116 in mice has been found to lead to increased food intake but not to the development of obesity. To determine the role of Snord116 independent of potential compensatory developmental factors, we investigated the effects of conditional adult-onset deletion of Snord116 in mice. Deletion of Snord116 was induced at 8 weeks of age by oral administration of tamoxifen to male Snordlox/lox; ROSAcre/+ mice, with vehicle-treated mice used as controls. Body weight (BW) was monitored weekly and body composition was measured by dual-energy X-ray absorptiometry and tissue dissection. Non-fasted and fasting-induced food intake was determined, and glucose and insulin tolerance tests were performed. Twenty-four-hour energy expenditure and physical activity were assessed by indirect calorimetry. Adult-onset deletion of Snord116 led to reduced food intake and increased adiposity, albeit with no concomitant change in BW or lean mass compared to controls. Adult onset Snord116 deletion was also associated with worsened glucose tolerance and insulin sensitivity. This study identified a key role for Snord116 in feeding behaviour and growth. Further, it is likely that the effects of this gene are modulated by developmental stage, as mice with adult-onset deletion showed an opposite phenotype, with respect to food intake and body composition, to previously published data on mice with germline deletion.

  19. Valproic acid silencing of ascl1b/Ascl1 results in the failure of serotonergic differentiation in a zebrafish model of fetal valproate syndrome

    Directory of Open Access Journals (Sweden)

    John Jacob

    2014-01-01

    Full Text Available Fetal valproate syndrome (FVS is caused by in utero exposure to the drug sodium valproate. Valproate is used worldwide for the treatment of epilepsy, as a mood stabiliser and for its pain-relieving properties. In addition to birth defects, FVS is associated with an increased risk of autism spectrum disorder (ASD, which is characterised by abnormal behaviours. Valproate perturbs multiple biochemical pathways and alters gene expression through its inhibition of histone deacetylases. Which, if any, of these mechanisms is relevant to the genesis of its behavioural side effects is unclear. Neuroanatomical changes associated with FVS have been reported and, among these, altered serotonergic neuronal differentiation is a consistent finding. Altered serotonin homeostasis is also associated with autism. Here we have used a chemical-genetics approach to investigate the underlying molecular defect in a zebrafish FVS model. Valproate causes the selective failure of zebrafish central serotonin expression. It does so by downregulating the proneural gene ascl1b, an ortholog of mammalian Ascl1, which is a known determinant of serotonergic identity in the mammalian brainstem. ascl1b is sufficient to rescue serotonin expression in valproate-treated embryos. Chemical and genetic blockade of the histone deacetylase Hdac1 downregulates ascl1b, consistent with the Hdac1-mediated silencing of ascl1b expression by valproate. Moreover, tonic Notch signalling is crucial for ascl1b repression by valproate. Concomitant blockade of Notch signalling restores ascl1b expression and serotonin expression in both valproate-exposed and hdac1 mutant embryos. Together, these data provide a molecular explanation for serotonergic defects in FVS and highlight an epigenetic mechanism for genome-environment interaction in disease.

  20. Valproic acid silencing of ascl1b/Ascl1 results in the failure of serotonergic differentiation in a zebrafish model of fetal valproate syndrome.

    Science.gov (United States)

    Jacob, John; Ribes, Vanessa; Moore, Steven; Constable, Sean C; Sasai, Noriaki; Gerety, Sebastian S; Martin, Darren J; Sergeant, Chris P; Wilkinson, David G; Briscoe, James

    2014-01-01

    Fetal valproate syndrome (FVS) is caused by in utero exposure to the drug sodium valproate. Valproate is used worldwide for the treatment of epilepsy, as a mood stabiliser and for its pain-relieving properties. In addition to birth defects, FVS is associated with an increased risk of autism spectrum disorder (ASD), which is characterised by abnormal behaviours. Valproate perturbs multiple biochemical pathways and alters gene expression through its inhibition of histone deacetylases. Which, if any, of these mechanisms is relevant to the genesis of its behavioural side effects is unclear. Neuroanatomical changes associated with FVS have been reported and, among these, altered serotonergic neuronal differentiation is a consistent finding. Altered serotonin homeostasis is also associated with autism. Here we have used a chemical-genetics approach to investigate the underlying molecular defect in a zebrafish FVS model. Valproate causes the selective failure of zebrafish central serotonin expression. It does so by downregulating the proneural gene ascl1b, an ortholog of mammalian Ascl1, which is a known determinant of serotonergic identity in the mammalian brainstem. ascl1b is sufficient to rescue serotonin expression in valproate-treated embryos. Chemical and genetic blockade of the histone deacetylase Hdac1 downregulates ascl1b, consistent with the Hdac1-mediated silencing of ascl1b expression by valproate. Moreover, tonic Notch signalling is crucial for ascl1b repression by valproate. Concomitant blockade of Notch signalling restores ascl1b expression and serotonin expression in both valproate-exposed and hdac1 mutant embryos. Together, these data provide a molecular explanation for serotonergic defects in FVS and highlight an epigenetic mechanism for genome-environment interaction in disease.

  1. Role of common and rare variants in SCN10A: results from the Brugada syndrome QRS locus gene discovery collaborative study.

    Science.gov (United States)

    Behr, Elijah R; Savio-Galimberti, Eleonora; Barc, Julien; Holst, Anders G; Petropoulou, Evmorfia; Prins, Bram P; Jabbari, Javad; Torchio, Margherita; Berthet, Myriam; Mizusawa, Yuka; Yang, Tao; Nannenberg, Eline A; Dagradi, Federica; Weeke, Peter; Bastiaenan, Rachel; Ackerman, Michael J; Haunso, Stig; Leenhardt, Antoine; Kääb, Stefan; Probst, Vincent; Redon, Richard; Sharma, Sanjay; Wilde, Arthur; Tfelt-Hansen, Jacob; Schwartz, Peter; Roden, Dan M; Bezzina, Connie R; Olesen, Morten; Darbar, Dawood; Guicheney, Pascale; Crotti, Lia; Jamshidi, Yalda

    2015-06-01

    Brugada syndrome (BrS) remains genetically heterogeneous and is associated with slowed cardiac conduction. We aimed to identify genetic variation in BrS cases at loci associated with QRS duration. A multi-centre study sequenced seven candidate genes (SCN10A, HAND1, PLN, CASQ2, TKT, TBX3, and TBX5) in 156 Caucasian SCN5A mutation-negative BrS patients (80% male; mean age 48) with symptoms (64%) and/or a family history of sudden death (47%) or BrS (18%). Forty-nine variants were identified: 18 were rare (MAF segregation analysis was possible for four of seven probands carrying a novel pathogenic variant. Only one pedigree (I671V/G1299A in SCN10A) showed co-segregation. The SCN10A SNP V1073 was, however, associated strongly with BrS [66.9 vs. 40.1% (UK10K) OR (95% CI) = 3.02 (2.35-3.87), P = 8.07 × 10-19]. Voltage-clamp experiments for NaV1.8 were performed for SCN10A common variants V1073, A1073, and rare variants of interest: A200V and I671V. V1073, A200V and I671V, demonstrated significant reductions in peak INa compared with ancestral allele A1073 (rs6795970). Rare variants in the screened QRS-associated genes (including SCN10A) are not responsible for a significant proportion of SCN5A mutation negative BrS. The common SNP SCN10A V1073 was strongly associated with BrS and demonstrated loss of NaV1.8 function, as did rare variants in isolated patients. Published on behalf of the European Society of Cardiology. All rights reserved. © The Author 2015. For permissions please email: journals.permissions@oup.com.

  2. BRCA1 and BRCA2 mutations in males with familial breast and ovarian cancer syndrome. Results of a Spanish multicenter study.

    Science.gov (United States)

    de Juan, Inmaculada; Palanca, Sarai; Domenech, Asunción; Feliubadaló, Lidia; Segura, Ángel; Osorio, Ana; Chirivella, Isabel; de la Hoya, Miguel; Sánchez, Ana Beatriz; Infante, Mar; Tena, Isabel; Díez, Orland; Garcia-Casado, Zaida; Vega, Ana; Teulé, Àlex; Barroso, Alicia; Pérez, Pedro; Durán, Mercedes; Carrasco, Estela; Juan-Fita, M José; Murria, Rosa; Llop, Marta; Barragan, Eva; Izquierdo, Ángel; Benítez, Javier; Caldés, Trinidad; Salas, Dolores; Bolufer, Pascual

    2015-12-01

    Male breast cancer (MBC) is a rare disease that represents hereditary breast and ovarian cancer syndrome (HBOCS) and clinicopathological features. We also study the relationship between BRCA1/BRCA2 mutational status in male relatives affected with cancer (MAC) and, family history and tumor types. The study included 312 men index cases with family history of HBOCS and 61 MAC BRCA1/2 mutation-carriers. Family history, histological grade (HG), clinicopathological and immunohistochemistry data were collected. BRCA1/2 mutation analyses were performed by direct sequencing or screening methods and the large rearrangements by multiplex ligation dependent probe amplification. We found 49 mutation-carriers (15.7%), 95.9% with BRCA2 mutations. BRCA2 mutation-carriers were associated with families with at least one MBC and one BC in female (type II; p = 0.05). Strong association were found between the presence of pathogenic mutations in MBCs and the advanced HG (p = 0.003). c.658_659delTG, c.2808_2811delACAA, c.6275_6276delTT and c.9026_9030delATCAT were the most prevalent mutations. In 61 MAC we found 20 mutations in BRCA1 and 41 in BRCA2. For MAC we show that mutational status was differentially associated with family history (p = 0.018) and tumor type, being BRCA2 mutations linked with BC and prostatic cancer (p = 0.018). MBC caused by BRCA1/2 mutations define two types of MBCs. The most frequent caused by BRCA2 mutation linked to type II families and the rarest one attributed to BRCA1 mutation. Tumor associated with MAC suggest that only BRCA2 mutations have to do with a specific type of cancer (BC and prostatic cancer); but the linkage to tumors is questionable for BRCA1 mutations .

  3. The association between serum uric acid levels, metabolic syndrome and cardiovascular disease in middle aged and elderly Chinese: results from the DYSlipidemia International Study.

    Science.gov (United States)

    Tian, Yongfeng; Chen, Kang; Xie, Zongyan; Fang, Yuan; Wang, Haibin; Nie, Yi; Hu, Dayi; Mu, Yiming

    2015-07-11

    To explore the association between serum uric acid (SUA) levels, metabolic syndrome (MetS) and cardiovascular disease (CVD) in patients treated with lipid-lowering agents from multiple centers in China. We investigated 15,478 participants who had been documented with recorded SUA in the DYSlipidemia International Study which included 25,697 patients, aged 45 years old or older, who were treated with lipid-lowering agents from 122 centers between April 2012 and October 2012. Logistic regression analysis was performed to examine the association between SUA levels, MetS and CVD. After adjusting for multi-variables, hyperuricemia (the highest category of SUA level) showed a significantly higher risk of MetS compared to the lowest category[according to NCEP-ATPIII criteria, odds ratio (OR) 1.51, 95 % confidence interval (CI) (1.30,1.74) in men, OR 2.35 95 % CI (2.00,2.75) in women; and according to IDF criteria, OR 1.40 95 % CI (1.20,1.63) in men, OR 1.65 95 % CI (1.41,1.94) in women]. In addition, elevated SUA concentration was shown to be associated with coronary heart disease (CHD) (OR 1.26 95 % CI (1.09, 1.45) in men, and OR 1.27, 95 % CI (1.07, 1.50) in women) and heart failure (HF) (OR 1.61 95 % CI (1.15, 2.24) in men, and OR 1.91, 95 % CI (1.29, 2.82) in women). Our research suggested a positive association between SUA levels and MetS in Chinese patients receiving lipid-lowering therapy. Elevated SU levels were positively associated independently of measured confounders to CHD and HF.

  4. Effect of cessation of GH treatment on cognition during transition phase in Prader-Willi syndrome: results of a 2-year crossover GH trial.

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    Kuppens, R J; Mahabier, E F; Bakker, N E; Siemensma, E P C; Donze, S H; Hokken-Koelega, A C S

    2016-11-16

    Patients with Prader-Willi syndrome (PWS) have a cognitive impairment. Growth hormone (GH) treatment during childhood improves cognitive functioning, while cognition deteriorates in GH-untreated children with PWS. Cessation of GH treatment at attainment of adult height (AH) might deteriorate their GH-induced improved cognition, while continuation might benefit them. We, therefore, investigated the effects of placebo versus GH administration on cognition in young adults with PWS who were GH-treated for many years during childhood and had attained AH. Two-year, randomized, double-blind, placebo-controlled cross-over study in 25 young adults with PWS. Cross-over intervention with placebo and GH (0.67 mg/m2/day), both during 1 year. Total (TIQ), verbal (VIQ) and performance IQ (PIQ) did not deteriorate during 1 year of placebo, compared to GH treatment (p > 0.322). Young adults with a lower TIQ had significantly more loss of TIQ points during placebo versus GH, in particular VIQ decreased more in those with a lower VIQ. The effect of placebo versus GH on TIQ, VIQ and PIQ was not different for gender or genotype. Compared to GH treatment, 1 year of placebo did not deteriorate cognitive functioning of GH-treated young adults with PWS who have attained AH. However, patients with a lower cognitive functioning had more loss in IQ points during placebo versus GH treatment. The reassuring finding that 1 year of placebo does not deteriorate cognitive functioning does, however, not exclude a gradual deterioration of cognitive functioning on the long term. ISRCTN24648386 , NTR1038 , Dutch Trial Register, www.trialregister.nl . Registered 16 August 2007.

  5. Real-world data on rufinamide treatment in patients with Lennox-Gastaut syndrome: Results from a European noninterventional registry study.

    Science.gov (United States)

    Nikanorova, Marina; Brandt, Christian; Auvin, Stéphane; McMurray, Rob

    2017-11-01

    Rufinamide is approved for the adjunctive treatment of seizures associated with Lennox-Gastaut syndrome (LGS) in patients aged ≥4years. The objective of this study was to provide real-world, long-term data on patients with LGS initiating rufinamide as add-on therapy and patients with LGS receiving other antiepileptic drugs (AEDs). A Phase IV, noninterventional, multicenter registry study was conducted in patients with LGS aged ≥4years requiring modification to any AED treatment, including initiation of add-on rufinamide therapy. Safety/tolerability was assessed by evaluating treatment-emergent adverse events (TEAEs), and efficacy was assessed using a generic seizure frequency scale. A total of 111 patients from 64 sites in 8 European countries were included, of whom 64 initiated rufinamide ("rufinamide" group) and 21 did not receive rufinamide at any time during the study ("no-rufinamide" group). Mean ages were 16.1years (rufinamide) and 15.0years (no rufinamide). The median duration of follow-up was >2years (range: 1.3-46.4months). Antiepileptic drug-related TEAEs were reported for 40.6% (rufinamide) and 33.3% (no rufinamide) of patients and led to discontinuation of 7.8% and 4.8%, respectively. The most frequently reported rufinamide-related TEAEs (≥5% patients) were somnolence (7.8%) and decreased appetite (6.3%). There were no unexpected safety/tolerability findings. At month 12, the proportion of patients with improvement in all seizures ("much improved" or "very much improved") was 28.6% (12/42) for the rufinamide group and 14.3% (2/14) for the no-rufinamide group. The study provided valuable information on LGS and its management, and evidence that rufinamide has a consistent and generally favorable safety/tolerability profile when used in routine clinical practice. CLINICALTRIALS. NCT01991041. Copyright © 2017 Elsevier Inc. All rights reserved.

  6. Multiple endocrine neoplasia type 2 syndromes (MEN 2): results from the ItaMEN network analysis on the prevalence of different genotypes and phenotypes.

    Science.gov (United States)

    Romei, Cristina; Mariotti, Stefano; Fugazzola, Laura; Taccaliti, Augusto; Pacini, Furio; Opocher, Giuseppe; Mian, Caterina; Castellano, Maurizio; degli Uberti, Ettore; Ceccherini, Isabella; Cremonini, Nadia; Seregni, Ettore; Orlandi, Fabio; Ferolla, Piero; Puxeddu, Efisio; Giorgino, Francesco; Colao, Annamaria; Loli, Paola; Bondi, Fabio; Cosci, Barbara; Bottici, Valeria; Cappai, Antonello; Pinna, Giovanni; Persani, Luca; Verga, Uberta; Uberta, Verga; Boscaro, Marco; Castagna, Maria Grazia; Cappelli, Carlo; Zatelli, Maria Chiara; Faggiano, Antongiulio; Francia, Giuseppe; Brandi, Maria Luisa; Falchetti, Alberto; Pinchera, Aldo; Elisei, Rossella

    2010-08-01

    Multiple endocrine neoplasia type 2 (MEN 2) is a genetic disease characterized by medullary thyroid carcinoma (MTC) associated (MEN 2A and 2B) or not familial MTC (FMTC) with other endocrine neoplasia due to germline RET gene mutations. The prevalence of these rare genetic diseases and their corresponding RET mutations are unknown due to the small size of the study population. We collected data on germline RET mutations of 250 families with hereditary MTC followed in 20 different Italian centres. The most frequent RET amino acid substitution was Val804Met (19.6%) followed by Cys634Arg (13.6%). A total of 40 different germline RET mutations were present. Six families (2.4%) were negative for germline RET mutations. The comparison of the prevalence of RET germline mutations in the present study with those published by other European studies showed a higher prevalence of Val804Met and Ser891Ala mutations and a lower prevalence of Leu790Phe and Tyr791Phe (P<0.0001). A statistically significant higher prevalence of mutations affecting non-cysteine codons was also found (P<0.0001). Furthermore, the phenotype data collection showed an unexpected higher prevalence of FMTC (57.6%) with respect to other MEN 2 syndromes (34% MEN 2A and 6.8% of MEN 2B). In conclusion, we observed a statistically significant different pattern of RET mutations in Italian MEN 2 families with respect to other European studies and a higher prevalence of FMTC phenotype. The different ethnic origins of the patients and the particular attention given to analysing apparently sporadic MTC for RET germline mutations may explain these findings.

  7. The effect of a disease management algorithm and dedicated postacute coronary syndrome clinic on achievement of guideline compliance: results from the parkland acute coronary event treatment study.

    Science.gov (United States)

    Yorio, Jeff; Viswanathan, Sundeep; See, Raphael; Uchal, Linda; McWhorter, Jo Ann; Spencer, Nali; Murphy, Sabina; Khera, Amit; de Lemos, James A; McGuire, Darren K

    2008-01-01

    The application of disease management algorithms by physician extenders has been shown to improve therapeutic adherence in selected populations. It is unknown whether this strategy would improve adherence to secondary prevention goals after acute coronary syndromes (ACSs) in a largely indigent county hospital setting. Patients admitted for ACS were randomized at the time of discharge to usual follow-up care versus the same care with the addition of a physician extender visit. Physician extender visits were conducted according to a treatment algorithm based on contemporary practice guidelines. Groups were compared using the primary end point of achievement of low-density lipoprotein treatment goals at 3 months after discharge and achievement of additional evidence-based practice goals. One hundred forty consecutive patients were randomized. A similar proportion of patients returned for study follow-up in both groups at 3 months (54 [79%]/68 in the usual care group vs 57 [79%]/72 in the intervention group; P = 0.97). Among those completing the 3-month visit, a low-density lipoprotein cholesterol level less than 100 mg/dL was achieved in 37 (69%) of the usual care patients compared with 35 (57%) of those in the intervention group (P = 0.43). There was no statistical difference in implementation of therapeutic lifestyle changes (smoking cessation, cardiac rehabilitation, or exercise) between groups. Prescription rates of evidence-based therapeutics at 3 months were similar in both groups. The implementation of a post-ACS clinic run by a physician extender applying a disease management algorithm did not measurably improve adherence to evidence-based secondary prevention treatment goals. Despite initially high rates of evidence-based treatment at discharge, adherence with follow-up appointments and sustained implementation of evidence-based therapies remains a significant challenge in this high-risk cohort.

  8. Autoimmune predisposition in Down syndrome may result from a partial central tolerance failure due to insufficient intrathymic expression of AIRE and peripheral antigens.

    Science.gov (United States)

    Giménez-Barcons, Mireia; Casteràs, Anna; Armengol, Maria del Pilar; Porta, Eduard; Correa, Paula A; Marín, Ana; Pujol-Borrell, Ricardo; Colobran, Roger

    2014-10-15

    Down syndrome (DS), or trisomy of chromosome 21, is the most common genetic disorder associated with autoimmune diseases. Autoimmune regulator protein (AIRE), a transcription factor located on chromosome 21, plays a crucial role in autoimmunity by regulating promiscuous gene expression (pGE). To investigate if autoimmunity in DS is promoted by the reduction of pGE owing to dysregulation of AIRE, we assessed the expression of AIRE and of several peripheral tissue-restricted Ag genes by quantitative PCR in thymus samples from 19 DS subjects and 21 euploid controls. Strikingly, despite the 21 trisomy, AIRE expression was significantly reduced by 2-fold in DS thymuses compared with controls, which was also confirmed by fluorescent microscopy. Allele-specific quantification of intrathymic AIRE showed that despite its lower expression, the three copies are expressed. More importantly, decreased expression of AIRE was accompanied by a reduction of pGE because expression of tissue-restricted Ags, CHRNA1, GAD1, PLP1, KLK3, SAG, TG, and TSHR, was reduced. Of interest, thyroid dysfunction (10 cases of hypothyroidism and 1 of Graves disease) developed in 11 of 19 (57.9%) of the DS individuals and in none of the 21 controls. The thymuses of these DS individuals contained significantly lower levels of AIRE and thyroglobulin, to which tolerance is typically lost in autoimmune thyroiditis leading to hypothyroidism. Our findings provide strong evidence for the fundamental role of AIRE and pGE, namely, central tolerance, in the predisposition to autoimmunity of DS individuals. Copyright © 2014 by The American Association of Immunologists, Inc.

  9. Outcome and causes of renal deterioration evaluated by serial cystatin C measurements in acute coronary syndrome patients -- results from the PLATelet inhibition and patient Outcomes (PLATO) study.

    Science.gov (United States)

    Akerblom, Axel; Wallentin, Lars; Siegbahn, Agneta; Becker, Richard C; Budaj, Andrzej; Horrow, Jay; Husted, Steen; Katus, Hugo; Claeys, Marc J; Storey, Robert F; Asenblad, Nils; James, Stefan K

    2012-11-01

    To investigate if ticagrelor treatment and other clinical characteristics were associated with increased cystatin C concentrations and if a deterioration in estimated renal function was associated with worse outcome in patients with acute coronary syndromes (ACS). Plasma cystatin C concentrations were determined within 24 hours of admission (baseline), at discharge, 1 month, and 6 months in the PLATO trial. The changes over time in relation to randomized treatment were analyzed by analysis of covariance. C-statistics and the relative Integrated Discrimination Improvement of the cystatin C concentrations regarding the primary outcome (cardiovascular death or myocardial infarction) was evaluated by multivariable analysis including background characteristics and biomarkers: N-terminal-pro-B-type natriuretic peptide and Troponin I. Mean cystatin C concentrations in 2133 ticagrelor- and 2162 clopidogrel-treated patients were at baseline (0.86 mg/L and 0.86 mg/L), discharge (1.01 mg/L and 0.98 mg/L) (P < .0005), 1 month (1.00 mg/L and 0.98 mg/L) (P = .12), and 6 months (1.00 mg/L and 0.99 mg/L) (P = .17), respectively. Age, heart failure, and type of ACS were major determinants of the cystatin C concentration. c Statistics and the relative Integrated Discrimination Improvement of the primary outcome for the baseline cystatin C concentration were 0.687 and 5.2%, compared to 0.684 and 4.5% at discharge (n = 4034) and 0.693 and 5.1% at one month (n = 3096), respectively. Mean cystatin C concentrations increased in ACS patients, most importantly determined by age. The initial greater increase in ticagrelor-treated patients was not sustained over time. Risk prediction did not improve with serial measurements of renal markers. Copyright © 2012 Mosby, Inc. All rights reserved.

  10. Short bowel syndrome results in increased gene expression associated with proliferation, inflammation, bile acid synthesis and immune system activation: RNA sequencing a zebrafish SBS model.

    Science.gov (United States)

    Schall, Kathy A; Thornton, Matthew E; Isani, Mubina; Holoyda, Kathleen A; Hou, Xiaogang; Lien, Ching-Ling; Grubbs, Brendan H; Grikscheit, Tracy C

    2017-01-25

    Much of the morbidity associated with short bowel syndrome (SBS) is attributed to effects of decreased enteral nutrition and administration of total parenteral nutrition (TPN). We hypothesized that acute SBS alone has significant effects on gene expression beyond epithelial proliferation, and tested this in a zebrafish SBS model. In a model of SBS in zebrafish (laparotomy, proximal stoma, distal ligation, n = 29) or sham (laparotomy alone, n = 28) surgery, RNA-Seq was performed after 2 weeks. The proximal intestine was harvested and RNA isolated. The three samples from each group with the highest amount of RNA were spiked with external RNA controls consortium (ERCC) controls, sequenced and aligned to reference genome with gene ontology (GO) enrichment analysis performed. Gene expression of ctnnb1, ccnb1, ccnd1, cyp7a1a, dkk3, ifng1-2, igf2a, il1b, lef1, nos2b, saa1, stat3, tnfa and wnt5a were confirmed to be elevated in SBS by RT-qPCR. RNA-seq analysis identified 1346 significantly upregulated genes and 678 significantly downregulated genes in SBS zebrafish intestine compared to sham with Ingenuity analysis. The upregulated genes were involved in cell proliferation, acute phase response signaling, innate and adaptive immunity, bile acid regulation, production of nitric oxide and reactive oxygen species, cellular barrier and coagulation. The downregulated genes were involved in folate synthesis, gluconeogenesis, glycogenolysis, fatty-acid oxidation and activation and drug and steroid metabolism. RT-qPCR confirmed gene expression differences from RNA-Sequencing. Changes of gene expression after 2 weeks of SBS indicate complex and extensive alterations of multiple pathways, some previously implicated as effects of TPN. The systemic sequelae of SBS alone are significant and indicate multiple targets for investigating future therapies.

  11. The Prevalence of Dental Implants and Related Factors in Patients with Sjögren Syndrome: Results from a Cohort Study.

    Science.gov (United States)

    Albrecht, Katinka; Callhoff, Johanna; Westhoff, Gisela; Dietrich, Thomas; Dörner, Thomas; Zink, Angela

    2016-07-01

    To investigate prevalence and patient-reported outcomes of dental implants in patients with Sjögren syndrome (SS). A total of 205 female patients from an observational cohort study answered oral health questionnaires about periodontal signs and symptoms, dentures, dental implants, comorbidities, and therapies that may interfere with bone remodeling. Data were compared with the reports of 87 female healthy controls. The patients were older than the controls (58 ± 12 and 54 ± 14 yrs, respectively) and differed substantially in the prevalence of self-reported gingivitis (60% and 35%), self-reported periodontitis (19% and 8%), and in the numbers of remaining teeth (21 ± 7 and 24 ± 5). Patients more frequently had removable prostheses (36% compared with 23%) and dental implants (16% compared with 7%). The 32 patients with SS with dental implants had a mean number of 3.1 ± 2.0 implants. Notably, for patients with implants, their oldest existing implant survived for a mean period of 4.9 ± 5.4 years. A total of 5 of 104 (4.8%) implants in the patients and none of the 14 implants in the controls had to be removed. A total of 75% of the patients were highly satisfied with the implants and 97% would recommend them to other patients with SS. A substantial portion of patients with SS have dental complications and require subsequent implants. The majority were satisfied with the implants and would recommend them to other patients. The high implant survival rate may encourage patients, rheumatologists, and dentists to consider dental implants for the treatment of patients with SS.

  12. [Asthenic syndrome in patients with burnout syndrome].

    Science.gov (United States)

    Chutko, L S; Surushkina, S Iu; Rozhkova, A V; Nikishena, I S; Iakovenko, E A

    2013-01-01

    The authors present the results of a survey of 103 patients aged 25 to 45 years with burnout syndrom. The results showed that most patients with the syndrome of burnout have clinical manifestations of asthenia, varying degrees of severity. According to psychological and psychophysiological examination in this group of patients were found attention and memory dysfunction. This study evaluated the efficacy of memoplant in the treatment of this pathology. The high efficiency of memoplant (improvement in 69.7% of cases) was detected, confirmed by the data of the clinical, psychological and neuropsychological research.

  13. METABOLIC SYNDROME

    OpenAIRE

    Dikanović, Marinko

    2015-01-01

    Metabolic syndrome is a cluster of disorders that include hyperlipidemia, inadequate insulin resistance, hypertension, and abdominal type obesity. Patients who suffer from this syndrome have an increased risk for heart disease and blood vessel disease, stroke and type II diabetes. The world's leading healthcare institutions also disagree on the exact definition of this organization poremećaja. NCEP (National Cholesterol Education Program) defines metabolic syndrome as a situation in which the...

  14. Urofacial syndrome

    Directory of Open Access Journals (Sweden)

    Kamal F Akl

    2012-01-01

    Full Text Available The urofacial syndrome is characterized by functional obstructive uropathy asso-ciated with an inverted smile. The importance of the subject is that it sheds light, not only on the muscles of facial expression, but also on the inheritance of voiding disorders and lower urinary tract malformations. We report a 10-year-old-male patient who had the urofacial syndrome. Early diagnosis of the urofacial syndrome is important to avoid upper urinary tract damage and renal failure.

  15. Revesz syndrome

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    Dayane Cristine Issaho

    2015-04-01

    Full Text Available Revesz syndrome is a rare variant of dyskeratosis congenita and is characterized by bilateral exudative retinopathy, alterations in the anterior ocular segment, intrauterine growth retardation, fine sparse hair, reticulate skin pigmentation, bone marrow failure, cerebral calcification, cerebellar hypoplasia and psychomotor retardation. Few patients with this syndrome have been reported, and significant clinical variations exist among patients. This report describes the first Brazilian case of Revesz syndrome and its ocular and clinical features.

  16. [Caroli's syndrome].

    Science.gov (United States)

    Li, Ji; Qiu, Zheng-Qing; Wei, Min

    2009-01-01

    Caroli's syndrome is a rare autosomal recessive hereditary disease. Here a case of Caroli's syndrome associated with medullary sponge kidney was reported. The patient was a 2-years and 10 months-old boy. He presented with hepatosplenomegaly. Fever, abdominal pain or jaundice was not found. The imaging examination showed intrahepatic bile duct dilation, splenomegaly, medullary sponge kidney and nephrocalcinosis. After introduction of the case, this paper reviewed the clinical characteristics, diagnosis and treatment of Caroli's syndrome.

  17. Metabolic syndrome and anesthesia

    OpenAIRE

    Gómez-Alegría Claudio Jaime; Gómez-Camargo Doris; Palomino-Romero Roberto; Pomares-Estrada José

    2010-01-01

    Metabolic Syndrome (MS) represents a constellation of risk factors associated with an increased incidence of cardiovascular disease and progression to diabetes mellitus. Insulin resistance, a state of reduced biological response to physiological insulin concentrations, is a key component of this syndrome appears to result from a primary defect in skeletal muscle glucose transporter. The acute disease and the perioperative period are characterized by a state of insulin resistance that manifest...

  18. Celiac Artery Compression Syndrome

    Directory of Open Access Journals (Sweden)

    Mohammed Muqeetadnan

    2013-01-01

    Full Text Available Celiac artery compression syndrome is a rare disorder characterized by episodic abdominal pain and weight loss. It is the result of external compression of celiac artery by the median arcuate ligament. We present a case of celiac artery compression syndrome in a 57-year-old male with severe postprandial abdominal pain and 30-pound weight loss. The patient eventually responded well to surgical division of the median arcuate ligament by laparoscopy.

  19. Ectopic corticotroph syndrome

    OpenAIRE

    Penezić Zorana; Savić Slavica; Vujović Svetlana; Tatić Svetislav B.; Ercegovac Maja; Drezgić Milka

    2004-01-01

    INTRODUCTION Endogenous Cushing's syndrome is a clinical state resulting from prolonged, inappropriate exposure to excessive endogenous secretion of Cortisol and hence excess circulating free cortisol, characterized by loss of the normal feedback mechanisms of the hypothalamo-pituitary-adrenal axis and the normal circadian rhythm of cortisol secretion [2]. The etiology of Cushing's syndrome may be excessive ACTH secretion from the pituitary gland, ectopic ACTH secretion by nonpituitary tumor,...

  20. Horner syndrome: clinical perspectives

    Science.gov (United States)

    Kanagalingam, Sivashakthi; Miller, Neil R

    2015-01-01

    Horner syndrome consists of unilateral ptosis, an ipsilateral miotic but normally reactive pupil, and in some cases, ipsilateral facial anhidrosis, all resulting from damage to the ipsilateral oculosympathetic pathway. Herein, we review the clinical signs and symptoms that can aid in the diagnosis and localization of a Horner syndrome as well as the causes of the condition. We emphasize that pharmacologic testing can confirm its presence and direct further testing and management. PMID:28539793

  1. Does cheese intake blunt the association between soft drink intake and risk of the metabolic syndrome? Results from the cross-sectional Oslo Health Study.

    Science.gov (United States)

    Høstmark, Arne Torbjørn; Haug, Anna

    2012-01-01

    A high soft drink intake may promote, whereas intake of cheese may reduce risk of the metabolic syndrome (MetS), but will cheese intake blunt the soft drink versus MetS association? Cross-sectional study. The Oslo Health Study. Among the 18 770 participants of the Oslo Health Study there were 5344 men and 6150 women having data on cheese and soft drink intake and on risk factors for MetS, except for fasting glucose. The MetSRisk index=the weighted sum of triglycerides (TG), systolic blood pressure, diastolic blood pressure, waist circumference and body mass index (BMI) divided by high-density lipoprotein (HDL) were used as a combined risk estimate to examine the cheese/soft drink versus MetS interaction, and the SumRisk index was used to assess whether increasing intake of soft drinks/cheese would include an increasing number of MetS factors being above the cut-off values. We analysed the data using non-parametric correlation and analysis of covariance (ANCOVA). In all three groups of soft drink intake (seldom/rarely, 1-6 glasses/week, ≥1 glass/day), there was a negative cheese versus MetSRisk correlation (p≤0.003), but in the highest intake group the influence of cheese seemed to level off, suggesting interaction. However, there was no interaction between cheese and soft drinks within the fully adjusted models. Conversely, at all four levels of cheese intake, MetSRisk increased with an increasing intake of soft drinks (p≤0.001 at all cheese levels). Similar associations were found with the SumRisk index. When controlling for a large number of covariates (eg, sex, age group, smoking, education, physical activity, intake of fruits/berries and vegetables), the above associations prevailed. Cheese intake blunted the association between soft drink intake and MetS, an influence possibly related to fatty acid desaturation, or to undetected covariates.

  2. Photodynamic therapy of subfoveal choroidal neovascularization with verteporfin in the ocular histoplasmosis syndrome: one-year results of an uncontrolled, prospective case series.

    Science.gov (United States)

    Saperstein, David A; Rosenfeld, Philip J; Bressler, Neil M; Rosa, Robert H; Sickenberg, Michel; Sternberg, Paul; Aaberg, Thomas M; Aaberg, Thomas M; Reaves, Troy A

    2002-08-01

    To evaluate the safety and effect on visual acuity of photodynamic therapy with verteporfin (Visudyne, Novartis AG) in patients with subfoveal choroidal neovascularization (CNV) secondary to the ocular histoplasmosis syndrome (OHS). Open-label, three-center, noncomparative prospective case series. OHS patients with subfoveal CNV lesions no larger than 5400 micro m in greatest linear dimension (GLD) with classic or occult CNV extending under the geometric center of the foveal avascular zone and best-corrected visual acuity letter score of 73 to 34 (approximate Snellen equivalent 20/40-20/200). Twenty-six patients received verteporfin (6 mg/m(2)) infused IV over 10 minutes. Fifteen minutes after the start of infusion, a laser light at 689 nm delivered 50 J/cm(2) at an intensity of 600 mW/cm(2) over 83 seconds using a spot size with a diameter 1000 micro m larger than the GLD of the lesion. At 3-month follow-up examinations, retreatment with the same regimen was applied if angiography showed fluorescein leakage. Safety assessments were also made. Visual function measurements were the changes from baseline in visual acuity and contrast sensitivity scores and the proportion of patients who, based on best-corrected visual acuity scores, (1) gained 7 or more letters, (2) lost 8 or more letters, and (3) lost 15 or more letters. One patient was omitted from the study at the month 3 examination for not meeting the visual acuity eligibility requirements at baseline. By the month 12 examination, but excluding any retreatment at that visit, patients had received an average of 2.9 treatments of a maximum of 4 possible treatments. The month 12 median improvement from baseline in visual acuity of the remaining 25 patients was 7 letters, and median contrast sensitivity improved by 2 letters. Median visual acuity improvement was also 7 letters when three patients, who failed to meet all photographic eligibility requirements at baseline, were excluded. At the month 12 examination, 14

  3. Ticagrelor vs. clopidogrel in patients with non-ST-elevation acute coronary syndrome with or without revascularization: results from the PLATO trial.

    Science.gov (United States)

    Lindholm, Daniel; Varenhorst, Christoph; Cannon, Christopher P; Harrington, Robert A; Himmelmann, Anders; Maya, Juan; Husted, Steen; Steg, Philippe Gabriel; Cornel, Jan H; Storey, Robert F; Stevens, Susanna R; Wallentin, Lars; James, Stefan K

    2014-08-14

    The optimal platelet inhibition strategy for ACS patients managed without revascularization is unknown. We aimed to evaluate efficacy and safety of ticagrelor vs. clopidogrel in the non-ST-elevation acute coronary syndrome (NSTE-ACS) subgroup of the PLATO trial, in the total cohort, and in the subgroups managed with and without revascularization within 10 days of randomization. We performed a retrospective analysis of the primary endpoint of cardiovascular death/myocardial infarction/stroke. Among 18 624 PLATO patients, 11 080 (59%) were categorized as NSTE-ACS at randomization. During the initial 10 days, 74% had angiography, 46% PCI, and 5% CABG. In NSTE-ACS patients, the primary endpoint was reduced with ticagrelor vs. clopidogrel [10.0 vs. 12.3%; hazard ratio (HR) 0.83; 95% confidence interval (CI) = 0.74-0.93], as was myocardial infarction (6.6 vs. 7.7%; HR 0.86; 95% CI = 0.74-0.99), cardiovascular death (3.7 vs. 4.9%; HR 0.77; 95% CI = 0.64-0.93), and all-cause death (4.3 vs. 5.8%; HR 0.76; 95% CI = 0.64-0.90). Major bleeding rate was similar between treatment groups (13.4 vs. 12.6%; HR 1.07; 95% CI = 0.95-1.19), but ticagrelor was associated with an increase in non-CABG major bleeding (4.8 vs. 3.8%; HR 1.28; 95% CI = 1.05-1.56). Within the first 10 days, 5366 (48.4%) patients were managed without revascularization. Regardless of revascularization or not, ticagrelor consistently reduced the primary outcome (HR 0.86 vs. 0.85, interaction P = 0.93), and all-cause death (HR 0.75 vs. 0.73, interaction P = 0.89) with no significant increase in overall major bleeding. In patients with NSTE-ACS, benefit of ticagrelor over clopidogrel in reducing ischaemic events and total mortality was consistent with the overall PLATO trial, independent of actually performed revascularization during the initial 10 days. © The Author 2014. Published by Oxford University Press on behalf of the European Society of Cardiology.

  4. Growth differentiation factor-15 level predicts major bleeding and cardiovascular events in patients with acute coronary syndromes: results from the PLATO study.

    Science.gov (United States)

    Hagström, Emil; James, Stefan K; Bertilsson, Maria; Becker, Richard C; Himmelmann, Anders; Husted, Steen; Katus, Hugo A; Steg, Philippe Gabriel; Storey, Robert F; Siegbahn, Agneta; Wallentin, Lars

    2016-04-21

    Growth differentiation factor-15 (GDF-15) predicts death and composite cardiovascular (CV) events in patients with acute coronary syndrome (ACS). We investigated the independent associations between GDF-15 levels and major bleeding, the extent of coronary lesions and individual CV events in patients with ACS. Growth differentiation factor-15 was analysed at baseline ( ITALIC! n = 16 876) in patients with ACS randomized to ticagrelor or clopidogrel in the PLATO (PLATelet inhibition and patient Outcomes) trial. Growth differentiation factor-15 levels were related to extent of coronary artery disease (CAD) and to all types of non-coronary artery bypass grafting (CABG)-related major bleeding, spontaneous myocardial infarction (MI), stroke, and death during 12-month follow-up. In Cox proportional hazards models adjusting for established risk factors for CV disease and prognostic biomarkers (N-terminal pro B-type natriuretic peptide, cystatin C, high-sensitive C-reactive protein, and high-sensitive troponin T), 1 SD increase in ln GDF-15 was associated with increased risk of major bleeding with a hazard ratio (HR) 1.37 (95% confidence interval: 1.25-1.51) and with a similar increase in risk across different bleeding locations. For the same increase in ln GDF-15, the HR for the composite of CV death, spontaneous MI, and stroke was 1.29 (1.21-1.37), CV death 1.41 (1.30-1.53), all-cause death 1.41 (1.31-1.53), spontaneous MI 1.15 (1.05-1.26), and stroke 1.19 (1.01-1.42). The ITALIC! C-statistic improved for the prediction of CV death and non-CABG-related major bleeding when adding GDF-15 to established risk factors. In patients with ACS, higher levels of GDF-15 are associated with raised risks of all types of major non-CABG-related bleeding, spontaneous MI, and stroke as well as CV and total mortality and seem to improve risk stratification for CV-mortality and major bleeding beyond established risk factors. www.clinicaltrials.gov; NCT00391872. Published on behalf of the

  5. Nurse-led telephone-based follow-up of secondary prevention after acute coronary syndrome: One-year results from the randomized controlled NAILED-ACS trial.

    Directory of Open Access Journals (Sweden)

    Daniel Huber

    Full Text Available Secondary prevention after acute coronary syndrome (ACS could reduce morbidity and mortality, but guideline targets are seldom reached. We hypothesized that nurse-led telephone-based intervention would increase adherence.The NAILED ACS trial is a prospective, controlled, randomized trial. Patients admitted for ACS at Östersund hospital, Sweden, were randomized to usual follow-up by a general practitioner or a nurse-led intervention. The intervention comprised telephone follow-up after 1 month and then yearly with lifestyle counselling and titration of medications until reaching target values for LDL-C (<2.5 mmol/L and blood pressure (BP; <140/90 mmHg or set targets were deemed unachievable. This is a 12-month exploratory analysis of the intervention.A total of 768 patients (396 intervention, 372 control completed the 12-month follow-up. After titration at the 1-month follow-up, mean LDL-C was 0.38 mmol/L (95% CI 0.28 to 0.48, p<0.05, mean systolic BP 7 mmHg (95% CI 4.5 to 9.2, p<0.05, and mean diastolic BP 4 mmHg (95% CI 2.4 to 4.1, p<0.05 lower in the intervention group. Target values for LDL-C and systolic BP were met by 94.1% and 91.9% of intervention patients and 68.4% and 65.6% of controls (p<0.05. At 12 months, mean LDL was 0.3 mmol/L (95% CI 0.1 to 0.4, p <0.05, systolic BP 1.5 mmHg (95% CI -1.0 to 4.1, p = 0.24, and mean diastolic BP 2.1 mmHg (95% CI 0.6 to 3.6, p <0.05 lower in the intervention group. Target values for LDL-C and systolic BP were met in 77.7% and 68.9% of intervention patients and 63.2% and 63.7% of controls (p<0.05 and p = 0.125.Nurse-led telephone-based secondary prevention was significantly more efficient at improving LDL-C and diastolic BP levels than usual care. The effect of the intervention declined between 1 and 12 months. Further evaluation of the persistence to the intervention is needed.

  6. Troyer Syndrome

    Science.gov (United States)

    ... Syndrome Information Page NINDS Whiplash Information Page NINDS Infantile Spasms Information Page NINDS Myotonia Congenita Information Page NINDS Ataxias and Cerebellar or Spinocerebellar Degeneration Information Page Congenital ...

  7. [Cardiorenal syndromes].

    Science.gov (United States)

    Késöi, István; Sági, Balázs; Vas, Tibor; Pintér, Tünde; Kovács, Tibor; Wittmann, István; Nagy, Judit

    2011-09-18

    Cardiac and kidney diseases are very common, and increasingly coexist. Classification for cardiorenal syndrome and for its specific subtypes has been developed and published recently by a consensus group of the Acute Dialysis Quality Initiative. Cardiorenal syndromes have been classified according to whether the impairment of each organ is primary, secondary or whether heart and kidney dysfunction occurs simultaneously as a systemic disease. The different syndromes were classified into five subtypes. Type-1: acute cardiorenal syndrome: an abrupt worsening of cardiac function leading to acute kidney injury and/or dysfunction. Type-2: chronic cardiorenal syndrome: chronic abnormalities in cardiac function causing kidney injury and/or dysfunction. Type-3: acute renocardiac syndrome: abrupt worsening of kidney function leading to heart injury and/or dysfunction. Type-4: chronic renocardiac syndrome: chronic kidney diseases leading to heart injury, disease and/or dysfunction. Type-5: secondary cardiorenal syndrome: acute or chronic systemic diseases leading to simultaneous injury and/or dysfunction of heart and kidney. The identification of patients and the pathophysiological mechanisms underlying each syndrome subtype will help cardiologists, nephrologists and physicians working on intensive care units to characterize groups of their patients with cardiac and renal impairment and to provide a more accurate treatment for them.

  8. Down Syndrome: Eye Problems

    Science.gov (United States)

    ... En Español Read in Chinese What causes Down syndrome? Down syndrome is caused by a duplication of all ... in persons with Down syndrome. How common is Down syndrome? The frequency of Down syndrome is approximately 1 ...

  9. What Is Usher Syndrome?

    Science.gov (United States)

    ... Action You are here Home › Retinal Diseases Listen Usher Syndrome What is Usher syndrome? How is Usher syndrome ... available? Are there any related diseases? What is Usher Syndrome? Usher syndrome is an inherited condition characterized by ...

  10. Russell-Silver syndrome

    Science.gov (United States)

    Silver-Russell syndrome; Silver syndrome; RSS; Russell-Silver syndrome ... One in 10 children with this syndrome has a problem involving chromosome 7. In other people with the syndrome, it may affect chromosome 11. Most of the time, it ...

  11. Antisocial Behavioral Syndromes and Additional Psychiatric Comorbidity in Posttraumatic Stress Disorder Among U.S. Adults: Results from Wave 2 of the National Epidemiologic Survey on Alcohol and Related Conditions

    Science.gov (United States)

    Goldstein, Risë B.; Compton, Wilson M.; Grant, Bridget F.

    2010-01-01

    Background Despite the relatively high prevalence of antisocial personality disorder (ASPD) in individuals with posttraumatic stress disorder (PTSD), associations of ASPD with clinical presentation of PTSD, including additional comorbidity, have not been investigated. Objective To present nationally representative findings on associations of DSM-IV ASPD versus syndromal adult antisocial behavior without conduct disorder before age 15 with additional psychiatric disorders among U.S. adults with PTSD. Method Face-to-face interviews using the Alcohol Use Disorder and Associated Disabilities Interview Schedule-DSM-IV version in the Wave 2 National Epidemiologic Survey on Alcohol and Related Conditions (n=34,653). Results After adjustment for sociodemographics and additional comorbidity, both antisocial syndromes were significantly associated with bipolar I, attention-deficit/hyperactivity, substance use, and paranoid, schizoid, histrionic, and obsessive-compulsive personality disorders among respondents with PTSD. Odds of major depressive and generalized anxiety disorders were significantly reduced among men with ASPD. Conclusions Interventions targeting PTSD may require attention to co-occurring antisociality and additional comorbidity. PMID:20661317

  12. Avocado consumption is associated with better diet quality and nutrient intake, and lower metabolic syndrome risk in US adults: results from the National Health and Nutrition Examination Survey (NHANES 2001–2008

    Directory of Open Access Journals (Sweden)

    Fulgoni Victor L

    2013-01-01

    Full Text Available Abstract Background Avocados contain monounsaturated fatty acids (MUFA dietary fiber, essential nutrients and phytochemicals. However, no epidemiologic data exist on their effects on diet quality, weight management and other metabolic disease risk factors. The objective of this research was to investigate the relationships between avocado consumption and overall diet quality, energy and nutrient intakes, physiological indicators of health, and risk of metabolic syndrome. Methods Avocado consumption and nutrition data were based on 24-hour dietary recalls collected by trained NHANES interviewers using the USDA Automated Multiple Pass Method (AMPM. Physiological data were collected from physical examinations conducted in NHANES Mobile Examination Centers. Diet quality was calculated using the USDA’s Healthy Eating Index-2005. Subjects included 17,567 US adults  ≥ 19 years of age (49% female, including 347 avocado consumers (50% female, examined in NHANES 2001–2008. Least square means, standard errors, and ANOVA were determined using appropriate sample weights, with adjustments for age, gender, ethnicity, and other covariates depending on dependent variable of interest. Results Avocado consumers had significantly higher intakes of vegetables (p  Conclusions Avocado consumption is associated with improved overall diet quality, nutrient intake, and reduced risk of metabolic syndrome. Dietitians should be aware of the beneficial associations between avocado intake, diet and health when making dietary recommendations.

  13. A Rare Syndrome: Balint Syndrome

    OpenAIRE

    Gülnur Tekgöl Uzuner; Özge Keleş; Nevzat Uzuner

    2016-01-01

    Balint’s syndrome is a rare disorder affecting the ability to perceive the visual field as a whole, most commonly following damage to the bilateral occipital and parietal regions. This syndrome has three components as simultanagnosia, optic ataxia, and oculomotor apraxia. Simultanagnosia play a key role in this syndrome. Sixty-two years old male patient who applied the blindness symptom has been evaluated in outpatient clinic. We observed that there are some deficits in perceive of visual fie...

  14. Motor learning and Down syndrome: effects of reduced relative frequency of knowledge of results. http://dx.doi.org/10.5007/1980-0037.2013v15n2p225

    Directory of Open Access Journals (Sweden)

    Suzete Chiviacowsky

    2013-03-01

    Full Text Available The objective of the present study was to verify the effects of two frequencies (100 and 33% of knowledge of results (KR on the learning of a motor skill, in individuals with Down syndrome (DS. Twenty participants with DS were randomly assigned into two groups. While the 100% group received KR after each trials, the 33% group received KR in a third of the trials. The task consisted of throwing an implement on a target, with the dominant hand, while blindfolded. The acquisition phase consisted of 30 practice trials, while the retention phase, performed after 48 hours later, consisted of 10 trials without KR. The results showed no differences between the groups. We concluded that reduced relative frequencies of KR are as effective as high frequencies on the learning of simple motor tasks in adults with DS.

  15. Ethnic differences in the occurrence of acute coronary syndrome: results of the Malaysian National Cardiovascular Disease (NCVD) Database Registry (March 2006 - February 2010).

    Science.gov (United States)

    Lu, Hou Tee; Nordin, Rusli Bin

    2013-11-06

    The National Cardiovascular Disease (NCVD) Database Registry represents one of the first prospective, multi-center registries to treat and prevent coronary artery disease (CAD) in Malaysia. Since ethnicity is an important consideration in the occurrence of acute coronary syndrome (ACS) globally, therefore, we aimed to identify the role of ethnicity in the occurrence of ACS among high-risk groups in the Malaysian population. The NCVD involves more than 15 Ministry of Health (MOH) hospitals nationwide, universities and the National Heart Institute and enrolls patients presenting with ACS [ST-elevation myocardial infarction (STEMI), non-ST elevation myocardial infarction (NSTEMI) and unstable angina (UA)]. We analyzed ethnic differences across socio-demographic characteristics, hospital medications and invasive therapeutic procedures, treatment of STEMI and in-hospital clinical outcomes. We enrolled 13,591 patients. The distribution of the NCVD population was as follows: 49.0% Malays, 22.5% Chinese, 23.1% Indians and 5.3% Others (representing other indigenous groups and non-Malaysian nationals). The mean age (SD) of ACS patients at presentation was 59.1 (12.0) years. More than 70% were males. A higher proportion of patients within each ethnic group had more than two coronary risk factors. Malays had higher body mass index (BMI). Chinese had highest rate of hypertension and hyperlipidemia. Indians had higher rate of diabetes mellitus (DM) and family history of premature CAD. Overall, more patients had STEMI than NSTEMI or UA among all ethnic groups. The use of aspirin was more than 94% among all ethnic groups. Utilization rates for elective and emergency percutaneous coronary intervention (PCI) and coronary artery bypass graft (CABG) were low among all ethnic groups. In STEMI, fibrinolysis (streptokinase) appeared to be the dominant treatment options (>70%) for all ethnic groups. In-hospital mortality rates for STEMI across ethnicity ranges from 8.1% to 10.1% (p = 0

  16. Parental Alienation Syndrome

    Directory of Open Access Journals (Sweden)

    Fuat Torun

    2011-09-01

    Full Text Available Children who have been programmed by one parent to be alienated from the other parent are commonly seen in the context of child-custody disputes. Its primary manifestation is the child’s campaign of denigration against a parent, a campaign that has no justification. It is said to result from a combination of a programming (brainwashing parent’s indoctrinations and the child’s own contributions to the vilification of the targeted parent. Many evaluators use the term parental alienation syndrome to refer to the disorder engendered in such children. However, there is significant controversy going on about the validity of parental alienation syndrome. The purpose of this article has been to describe and help to differentiate parental alienation syndrome and abuse for mental health professionals working in the field, and discuss the arguments about the validity of this syndrome.

  17. Compartmental syndromes in children.

    Science.gov (United States)

    Matsen, F A; Veith, R G

    1981-01-01

    Compartmental syndromes are reported in 24 children after injuries and surgery. In these cases, increased tissue pressure compromised local perfusion and neuromuscular function. Compartmental syndromes occurred in the interosseous compartments of the hand, the volar and dorsal compartments of the forearm, and the four compartments of the leg. The most common etiologies were fracture, vascular injury, and tibial osteotomy. In many instances, clinical data were sufficient to establish the diagnosis. However, in young patients or in patients with neurologic or vascular injuries, tissue pressure measurement helped to resolve otherwise ambiguous findings. The most significant determinant of the quality of the end result was the duration of the compartmental syndrome prior to surgical decompression. We conclude that prompt diagnosis and decompression of compartmental syndromes can minimize the sequela from these conditions.

  18. Androgen insensitivity syndrome.

    Science.gov (United States)

    Hughes, Ieuan A; Davies, John D; Bunch, Trevor I; Pasterski, Vickie; Mastroyannopoulou, Kiki; MacDougall, Jane

    2012-10-20

    Androgen insensitivity syndrome in its complete form is a disorder of hormone resistance characterised by a female phenotype in an individual with an XY karyotype and testes producing age-appropriate normal concentrations of androgens. Pathogenesis is the result of mutations in the X-linked androgen receptor gene, which encodes for the ligand-activated androgen receptor--a transcription factor and member of the nuclear receptor superfamily. This Seminar describes the clinical manifestations of androgen insensitivity syndrome from infancy to adulthood, reviews the mechanism of androgen action, and shows examples of how mutations of the androgen receptor gene cause the syndrome. Management of androgen insensitivity syndrome should be undertaken by a multidisciplinary team and include gonadectomy to avoid gonad tumours in later life, appropriate sex-hormone replacement at puberty and beyond, and an emphasis on openness in disclosure. Copyright © 2012 Elsevier Ltd. All rights reserved.

  19. Children with Usher syndrome

    DEFF Research Database (Denmark)

    Dammeyer, Jesper Herup

    2012-01-01

    Background: Mental and behavioral disorders among adults with Usher syndrome have been discussed and reported in some case studies but no research has been reported on children with Usher syndrome. Methods: This article investigates the prevalence and characteristics of mental and behavioral...... disorders among 26 children, 3-17 years of age, with Usher syndrome. Results: Six of the 26 children were diagnosed with a mental or behavioral disorder (1 with schizophrenia and mild mental retardation, 1 with atypical autism and severe mental retardation, 1 with atypical autism and mild mental retardation......, 1 with mild mental retardation, and 2 with conduct disorder). Another 3 children had had a mental or behavioral disorder previously in their childhood. Conclusion: Even though vision impairment first manifests in late childhood, some children with Usher syndrome seem to develop mental and behavioral...

  20. 47,XXY Klinefelter syndrome

    DEFF Research Database (Denmark)

    Aksglaede, Lise; Link, Katarina; Giwercman, Aleksander

    2013-01-01

    47,XXY (Klinefelter syndrome) is the most frequent sex chromosomal disorder and affects approximately one in 660 newborn boys. The syndrome is characterized by varying degrees of cognitive, social, behavioral, and learning difficulties and in adulthood additionally primary testicular failure...... with small testes, hypergonadotropic hypogonadism, tall stature, and eunuchoid body proportions. The phenotype is variable ranging from "near-normal" to a significantly affected individual. In addition, newborns with Klinefelter syndrome generally present with a normal male phenotype and the only consistent...... clinical finding in KS is small testes, that are most often not identified until after puberty. Decreased awareness of this syndrome among health professionals and a general perception that all patients with 47,XXY exhibit the classic textbook phenotype results in a highly under-diagnosed condition with up...

  1. Is metabolic syndrome predictive of prevalence, extent, and risk of coronary artery disease beyond its components? Results from the multinational coronary CT angiography evaluation for clinical outcome: an international multicenter registry (CONFIRM).

    Science.gov (United States)

    Ahmadi, Amir; Leipsic, Jonathon; Feuchtner, Gudrun; Gransar, Heidi; Kalra, Dan; Heo, Ran; Achenbach, Stephan; Andreini, Daniele; Al-Mallah, Mouaz; Berman, Daniel S; Budoff, Matthew; Cademartiri, Filippo; Callister, Tracy Q; Chang, Hyuk-Jae; Chinnaiyan, Kavitha; Chow, Benjamin; Cury, Ricardo C; Delago, Augustin; Gomez, Millie J; Hadamitzky, Martin; Hausleiter, Joerg; Hindoyan, Niree; Kaufmann, Philipp A; Kim, Yong-Jin; Lin, Fay; Maffei, Erica; Pontone, Gianluca; Raff, Gilbert L; Shaw, Leslee J; Villines, Todd C; Dunning, Allison; Min, James K

    2